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Meet Cynthia….

She is a wife and a mom of two children.  She is sweet and she is strong, and life has dealt her some pretty tough hands.  There is little she hasn’t been able to handle.

The spouse and the best friend of a United States Marine, and a woman who was raised in a “hereditary cancer” family, adversity is not a stranger to her.

For years, she has waited at home, while her husband has been at war, fearing the phone may ring, cared for a child with Chiara Malformation which caused the little girl to develop a large syrinx in her spinal cord and undergo treatment of brain surgery, as well as worry about herself and her family who are affected by Lynch syndrome, and its strong predisposition to an extremely high risk of a litany of cancers.

She is a patient of TriCare, the military’s health insurance program which was charged with the responsibility of making certain she and her family are kept well while her husband was deployed with his Infantry Division of the United States Marines Corp.  While he was performing his mission overseas, and she was taking care of her mission at home, TriCare failed with their mission and has lead Cynthia on an long journey to obtain a lifesaving genetic test, to determine if she is predisposed to cancer.

Lynch syndrome is generational in Cynthia’s family. Her father, grandmother and many family members are diagnosed.  Her father passed away, from Lynch syndrome (LS) colorectal cancer, in 1987 at the age of 31, when she was young.  Those with LS, face an up to 82% lifetime risk of developing colorectal cancer.  His mother fought several different cancers before succumbing to pancreatic cancer at the age of 59. Persons with LS often contract several primary cancers during their lifetime.  Currently, her cousin has recently experienced a multitude of Lynch syndrome cancers.  The son of that cousin, passed away from a brain tumor at the age of seventeen.

Living with Lynch syndrome in a family such as Cynthia’s can be a frightening situation to live with, however in Cynthia’s family, hope exists.  Someone had already been diagnosed with LS through genetic testing, and many of her family members have as well and are now receiving annual preventative care in which growths, polyps, tumors and cancers are found early, and removed and treated before becoming life threatening.  Cynthia’s test is not expensive and will spare her the burden of having to undergo regularly screenings which are costly and may be unnecessary, so she not have the genetic mutation.

Cynthia’s biggest fear had always been contracting a Lynch syndrome cancer and leaving her children and husband behind.  All she needs is a simple genetic test, to test for the mutation which was common within her family.  And the organization charged with providing her with this care, is Tricare which for some reason, has chosen on several occasions not to allow her the test despite meeting all the basic criteria for the basic standard of care to have it administered.

Last year, following assessment of family history, her physician prescribed the test for her. They didn’t expect the staggering blow of denial from Tricare, stating there was lack of medical need.  The prescription of the physician complied with the standard of medical care and the family history was strongly established. A mutation of a mismatch repair gene, within the family, had already been detected. Tricare was most likely wrong in the decision they made, Cynthia thought for Tricare stated in their own online webpage the following coverage of services:

“Tricare Covered Services: Genetic Testing:  “…testing is covered when medically proven and appropriate, and when the results of the test will influence he medical management of the patient.  Routine genetic testing is not covered.”  That covered services still reads upon the webpage.

However, there was also a very serious contradiction which had been published in an antiquated regulation from 1983 was furnished to Cynthia, reading, “Tests for most genetic conditions fall under Tricare Policy Manual, Chapter 1, Section 2.1, which states: “If the drug or device cannot be lawfully marketed without the approval or clearance of the U.S. Food and Drug Administration (FDA) and approval or clearance for marketing has not been given at the time the drug or device is furnished to the patient…”

The two paragraphs were contradictory with one another, as almost all genetic tests are not FDA approved. Someone at Tricare had found a way to deny genetic testing to military members and military dependents.  By the insertion of this paragraph, there was one certainty for the families with hereditary cancers.  Nobody with a genetic condition would be granted a test by TriCare.

The rub is the specific genetic test Cynthia needs to protect her from the devastation of contracting cancer is considered to be a laboratory developed test (LDT), which doesn’t require FDA approval.  In fact, genetic testing has been prescribed to patients since 1993 and Tricare, until January 2013, had been following the basic standard of care and providing the tests as equally as they have been providing the PAP test, and a number of tests for other disorders…all which are considered LDTs.

On July 19, 2010, the FDA wrote a letter to manufacturers of genetic testing stating they wished to develop a policy regarding FDA approval for genetic testing. It didn’t ever occur, and to date, that goal of the FDA hasn’t been accomplished.  They have continued with their basic loosely allowed LDT testing.

At that time, as well, President Obama began pressing Tricare to increase their fees to lower the cost of governmental health care services.  It was shortly thereafter the pay codes for genetic testing were quietly changed, with little or no notification. 

In 2012, the American Medical Association revised codes to make it easier to define, with more specificity, each genetic test.  After this was completed, Tricare began to realize the many laboratory developed tests (LDTs) which existed and immediately and quietly began disallowing the majority of the tests in January of 2013, including the genetic test to diagnose Lynch syndrome. 

On 10/1/2013, Tricare published the following:  “Diagnostic genetic testing: Diagnostic genetic testing is covered only to confirm a clinical diagnosis that is already suspected based on a patient’s symptoms. Services should be billed using the appropriate Evaluation and Management codes. Refer to the TRICARE Policy Manual, Chapter 6, and Section 3.1. For antepartum services, refer to the TRICARE Policy Manual, Chapter 4, Section 18.2 at http://manuals.tricare.osd.mil.”

Interestingly enough, the codes in existence for Lynch syndrome read, “Do Not Pay.”  Every code Cynthia tried to utilize came back indicating “Do Not Pay,” clearly indicating Tricare intended not to test any person who was at risk for Lynch syndrome.

On this same date, the document stipulated genetic testing would be one of the few lab tests which required advance authorization.  “Labs (except for genetic testing, which requires authorization.)”  Obviously, under current regulations, they could have tested for Lynch syndrome with advance authorization, however determined to deny the authorization.

This document was not listed upon the website, which indicated coverage for Tricare insurance.

In the meantime, tests were still prescribed for military members and dependents, however, the billing from the laboratories was not paid by TriCare, in contradiction of their statements.  As of late, those billings been forwarded back to the military members to be paid, placing the burden of payment upon military families.

Tricare referred her to a genetic counselor, who advised she should be genetically tested.  Then oddly enough, despite the test had been placed on the “Do Not Pay List,” Cynthia was required by Tricare to file an appeal and document her medical need, presumably so they could document her family history and official denial. 

Cynthia complied. Both she and her physician emphasized the medical need and inserted a copy of her sister’s positive test results to substantiate the need, and how it fell into a basic standard of care necessity.

Despite this, she received another denial, this time with a different reason. Tricare cited it was an unproven test by the FDA citing the antiquated 1983 regulation.

Cynthia is not alone. Another military dependent, the wife of a soldier was actually tested, in accordance with Tri-Care coverage and Tricare left them holding the bill.  In another situation, lifesaving testing for an individual with leukemia was denied.  Tests to diagnose cystic fibrosis, which could open the door for children to receive intervention and potentially lifesaving treatment to prolong life have been denied the families of our service members.  The list goes on and on…

It has been reported Tricare is considering starting a “pilot program” for genetic testing, despite the fact genetic testing for Lynch syndrome has been undergoing for the past fifteen years.  To halt it and restart the process of “pilot programs,” is unacceptable.  Though assurances have been made Tricare’s actions would not jeopardize lives, lives have already been jeopardized and will continue, as Lynch syndrome cancers can metastasize in two to three years. 

“I don’t understand it,” Cynthia stated.  “We have always been there for our country.  And when we need them they aren’t there for us.  I proved to Tricare, beyond any doubt, that these tests are essential to the medical management of my care.  My life depends upon them.  Tricare denying these tests is horrific.”

It is deplorable when two agencies of the United States Government cannot speak to one another and do what is right for our soldiers, veterans and their families and leave them vulnerable for over a year, without the necessary lifesaving tests they need to survive.

Cynthia’s husband has had our backs for years.  It is time we showed our support and stand by him and his family during this terrible time of need. We urge our partner organizations to join us.

Call your Congressional and Senator today and ask them what has gone so terribly wrong that even the children and wives of those who risking their lives for our country, cannot get access to the basic care, which is afforded to everyday Americans.

 

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Upon request from Lynch syndrome families, thirty eight governors proclaimed March 22nd, 2014, Lynch Syndrome Hereditary Cancer Public Awareness Day in their states.

In the States of California and Tennessee, action is being taken within the State Legislative Bodies to issue a Joint Resolution to declare March 22nd as Lynch Syndrome Hereditary Cancer Public Awareness Day.

Within the remaining ten states, six were not requested to issue a proclamation and only four declined, including Texas, Oklahoma, Florida and the state of Maine.  

We are thrilled with the compassion and the dedication toward our families, from our Governors.  They are truly making a difference, and as a result, today, our families live.

For that, we are truly grateful!

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TEXANS!!!!  Save the Date, Spread the News, and Please Join Us!    
   
In recognition of "Lynch Syndrome Hereditary Cancer Public Awareness Day" on March 22, 2014 “To Protect Families and Save Lives” The North Texas Chapter of ACRP and the Biology Department at UT-Tyler have joined forces with Lynch Syndrome International, Ambry Genetics, and Myriad Genetics, Inc.,  to provide a Free public awareness presentation on Lynch syndrome,  also known as Hereditary Nonpolyposis Colon Cancer (HNPCC)  HNPCC and Genetic Testing  Presented by:  Patrick M. Lynch, JD, MD, Professor of Medicine University of Texas MD Anderson Cancer Center, Houston, TX
 
Saturday, March 22, 2014  3:30 pm to 6:00 pm  University Center (UC) Ballroom, 3rd Floor  The University of Texas at Tyler 3900 University Blvd, Tyler, Texas 75799
 
3:30 – 4:00 pm Sign-in, light refreshments, and Sponsor booths
 
4:00 – 6:00 pm Presentation followed by Question & Answer session  
 
HNPCC/Lynch syndrome is a disorder caused by a mutation in a mismatch repair gene in which affected individuals, often at a younger age than usual, have a higher than normal chance of developing colorectal, endometrial, ovarian, and various aggressive cancers including: bile duct, brain, breast, gallbladder, gastric tract, hepatobiliary tract, kidney, pancreas, prostate, skin, small bowel, stomach, thyroid and ureter.  
 
Program Objectives - Upon completion of this presentation, participants should be able to:
 
1. Describe the key clinical features of HNPCC
2. Determine appropriate circumstances in which mutational testing is appropriate, including role of tumor studies for MSI 3. Follow clinical practice guidelines for screening and management of HNPCC
4. Relay to HNPCC patients the need for communication about risk within families and the place for predictive testing  
 
Contact hours have been applied for through ACRP.  Refreshments are sponsored by Ambry Genetics and do not influence the content of the presentation.  
 
Speaker honorarium is sponsored by Myriad Genetics Inc. and does not influence the content of the presentation.
 
To RSVP online, check for updates or purchase contact hours, login at the ACRP NTX Chapter Website:  
 
http://www.acrpnet.org/GetInfoFor/USChapters/NorthTexas.aspx.  If you do not have a username and password, please use New Visitor Registration to register for the site.  Attendees may also register at the door.  To RSVP by phone, call Cindy Azghani at 903-253-4468 or send an email to This e-mail address is being protected from spambots. You need JavaScript enabled to view it  
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 In the U.S. each year, The American Cancer Society estimates 140,000 people will be diagnosed with colorectal cancer and approximately 49,000 people will die of the disease in the US. EGAPP standards were developed by Lynch syndrome experts in 2009. Iin 2012, 4516 of 140,000 tumors, nationwide, were tested by 91 institutions, recognizing those standards, which serve as a second prong to the diagnosis of Lynch syndrome. The results of this test when considering 3% of those tested had Lynch syndrome, equated to approximately 135 persons diagnosed each year nationally, through tumor testing, of the approximate 725,000, in the U.S. alone, not yet diagnosed. 

If it is considered each of those 135 persons had four family members tested, then, each year 540 persons, nationally, were given genetic testing for Lynch syndrome, with approximately 50% affected.  Add the 135 diagnosed with the 270 approximate, maximum number of members which would be affected and 405 individuals, nationally would be diagnosed with Lynch syndrome, annually, through the NCI Cancer Centers, utilizing tumor testing of CRC tumors. This is a very high figure assuming ALL will be tested, which is not ordinarily the case. At this rate, if one were to solely rely upon tumor testing for diagnosis (and awaiting for a family member to contract cancer) it would take over 1,342 years for our families to be diagnosed, with every member of the family following up on testing.  

Sadly enough, we have been seeing some California institutions and a few others rely on this sole form of tumor testing for diagnosis of Lynch syndrome.  It hasn't been effective.  Family members have died while less than 33% of those offered the genetic  counseling following tumor testing have accepted, with over two thirds of the numbers declining.  Something is terribly wrong with a process that does nothing to alleviate this issue and fails to make make the mandatory counseling issue a matter of patient choice. Our question is whatever happened to the oath of "Do No Harm?"

What other disease has a restriction of provision of a lifesaving test based upon rejection of attending two counseling sessions, prior to testing. The big question is, "Is it ethical."  The big issue is the question of to whom the policy benefits and whether or not it is worth the cost of a human life.

According to a straw poll of members of the advocacy organization, Lynch Syndrome International, 23% of those diagnosed with Lynch syndrome are diagnosed through those specific cancer centers, mentioned above. With this minimal level of overall diagnoses, it is clear the centers are not putting effort into the public awareness of the community, education of physicians and of most hereditary cancers, with the exception of hereditary breast cancer, which is diagnosed on an average of 400% to 800% more often than those with Lynch syndrome.  This is disconcerting in light of the fact most of these centers are university hospitals, which are responsible for medical education in their states.  

From the outside looking in, there is an appearance of a very strong disconnect between the medical community and the genetic community within these institutions. This is strongly apparent as we are currently seeing private practice physicians diagnosing more individuals annually, than those annually diagnosed by multiple genetic professionals at the cancer centers.

Glaringly noted for several years, while exhibiting  at medical conferences, is the absence of genetic professionals present (except for ASCO.) We feel this is the biggest failure of the medical and genetic community, to date, when there is an incredible opportunity to prevent cancers, rather than wait to treat a cancer if only the two factions should work together with mutual respect.  Major cancer institutions have a responsibility to educate their physicians and create community public awareness. If their intent is to be the leaders in cancer, they should be educating the physicians in the community and the public. In not doing so, most have failed our families.

Reported by the NCCN: " In a 2012 survey, 71% of National Cancer Institute (NCI) Comprehensive Cancer Centers [LSI note: 71 cancer centers total comprise the NCI Cancer Centers] reported that they routinely perform tissue testing (IHC/MSI) to screen for Lynch syndrome in CRC patients, said Hampel (J Clin Oncol. 2012;30:1058-1063).

However, the researchers acknowledged that not all Comprehensive Cancer Centers responded to the survey, which could have inflated the findings.

Notably, the survey found that this screening practice is not well adopted in community hospitals. Only 36% of responding community cancer centers with an accreditation from the American College of Surgeons reported routinely performing IHC/MSI testing of tumor tissue, as did only 15% of community hospital cancer centers."  When you add these two numbers together, they exceed the numbers of those diagnosed at the cancer centers, due to the larger numbers in the population bases.

Nonetheless, this is contrary to what we have experienced within our straw survey, which indicated sixty percent of those participated, with Lynch syndrome, were diagnosed by private physicians and through community hospitals, in which many more, than those within cancer centers, were diagnosed through tumor testing.  The phenomenom of low diagnoses seen in cancer insitutitons was not reflected within the community, where the majority of those with Lynch syndrome are identified and idagnosed.

We clearly need more institutions testing colorectal and endometrial tumors, in fulfilling the second prong of diagnosis, however, with less than 33% of our famlies participating in testing within the cancer center, the need is ever so much more that everyone engage in public awareness and educational activities and urge families to learn their family histories, urge physicians to take and assess family histories and get families genetically tested, so the numbers in the "second prong" of testing, those who have acquired cancers, will diminish.

Trust is essential in genetics and cancer industries. Patients and families need to be treated with respect and their desires need to be heard.  The paternalistic actions of the genetics community need to be toned down, patient voices need to be brought into the process and the genetics community needs to understand the role of advocacy and of advocacy organizations.  They are not solely present as a stand along support for the decisions of the genetics and medical communities, but in the decisions to benefit all.

We believe privacy is paramount, which is essential in the development of trust. We believe data mining genetic and medical records, without informed consent and without patient consent may be in violation of state laws in many states and may not be within the spirit of the laws set by the government. There may be an issue of ownership of those records and the privacy entitled due to such ownership. It is definitely disrespectful toward the patient and their family.  Every patient should be entitled a choice--a choice of whether to be tested, a choice of whether or not to share information about their family, a choice of whether to be involved in clinical trials and a choice of which clinical trials and to whom their records should be given.  Those are basic tools toward developing trust with patients, especially those with genetic conditions.

Currently, in the frontlines and trenches of the genetic revolution, times are tenuous and not only do we, as patients and those who care for us and believe as we do, need to be cautious and wary, but we also need to stand up and make it known what is acceptable and unacceptable from our public medical institutions (the severe lack of diagnoses)and let our voices be heard, loud and strong, in order to protect the future generations.

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Posted by on in News & Events

This brief questionnaire will help you determine whether you should be further evaluated for either Hereditary Breast and Ovarian Cancer syndrome or Lynch syndrome. On average, the quiz takes less than 1 minute to complete.

Hereditary Cancer Quiz

 

Tagged in: quiz
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Medicare contractors are holding public meetings on Lynch syndrome genetic testing and management.  https://med.noridianmedicare.com/web/jeb/policies/lcds/open

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Posted by on in News & Events

HEY EVERYONE!!!!!

 

SURVIVORS, PREVIVORS, FAMILY MEMBERS, CARETAKERS,

MEDICAL PROFESSIONALS, GENETIC COUNSELORS~~~~

 

SAVE THE DATE! June 21st, 2014!!!!

 

Big things are happening, so grab the kids, take the family dog to the neighbors, and head south to a world of magic!  Join us on Main Street USA, Orlando, Florida, for the First Lynch Syndrome International Conference and Family Reunion Get Together!  

 
There will be lots of excitement!  We hope to have the world experts present to provide vital updated information on Lynch syndrome, representatives from institutions to explain their clinical trials and whether or not you should be involved, great information on how to deal with the after affects of treatment, discussion on treatment options, the future of Lynch syndrome treatments and interventions in the pipeline, advocacy efforts and much more!
 
Bring the family...everyone, from Grandma and Grandpa, to the Aunties and Uncles, down to the grandkids.  We will have something for everybody on Saturday! 
 
Then, that night, we celebrate with a great big family reunion barbecue, awards and some terrific entertainment---maybe a little dancing, clapping, swaying to the music????  And, you never know who just might show up and join us!  It s going to be a wonderful evening!
 
We've worked hard to make it a good family vacation, complete with hotel discounts, Disneyworld Park Discounts, Transportation to all the venues, great rooms in a place that sponsors a Sunday morning breakfast buffet with the Disney characters, and wonderful resort amenities!
 
So, mark it on your calendar and get ready to embrace life--check the tires on the family car and be prepared for a positively, wonderful and invaluable time you will never forget!
 
Be sure and check back often, when we will be posting information with all the specifics in mid to late January!
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Long addressed has been the existing disparity between the funding, resources and commitment afforded Americans sustaining BRCA 1/2 gene mutations and those with Lynch syndrome.  What we haven't known is from where the dispartity stems.  This is part of a series of articles by LSI, searching into the roots of disparity and bias in the arena of genetics.  Where are its roots?

We have seen it existing in media awareness, federal funding, congressional legislation, insurance coverage, education of physicians by medical associations and care and treatment within major cancer hospitals.  LSI is studying where this disparity exists the most, so it can be resolved and our families can live.  

 

------------------------------------------

 

To determine the extent of the disparity in media awareness between the hereditary cancer conditions involving BRCA1/2 mutated genes which affect primarily women and the Lynch syndrome hereditary cancer mutated gene condition, LSI conducted a web search.  This search began with studying the documented internet media items of the major cancer institutions and two very large organizations, a national organization which strictly addresses cancer and the other which strictly addresses a professional organization responsible for education, awareness and diagnosis of those with genetic conditions.  This search involved using the Google search engine and entering the name of the institution or organization and the search term BRCA 1/2 or the search term Lynch syndrome.  No specific dates were entered, therefore the dates of dissemination would historically go back as far as all other items warehoused upon the internet.  Some information was reflected several times by several sources,(in example, information about a specific clinical study results) indicating strong PR efforts by the institution.

A clear bias toward enhanced education, public awareness, research and care for those with hereditary breast cancer was discovered in all major cancer centers and with both major organizations.  This institutional priority of genetic public awareness most likely affects the level of genetic testing and the specific conditions for that genetic testing, as well as sends a message to the staff members and the public of the priorities of the conditions ideal to be genetically tested. 

Further, it is believed it strongly affects physician education and sends a message the institution does not consider Lynch syndrome diagnosis a priority.  Therefore, it contributes toward not providing those with hereditary gastroenterological and gynecological conditions the necessary testing and care to sustain good health for themselves and their families.

It is our belief this may be a root cause of the belief of medical and public health professionals that Lynch syndrome is a rare condition.  (One of every 440 persons are thought to be affected by Lynch syndrome, making it anything but rare.)  It is most likely this creates a contribution in Lynch syndrome being so very seriously underdiagnosed.

The articles reflect the public awareness of each syndrome (BRCA 1/2 or Lynch Syndrome) and the media efforts to educate or create public awareness.  The figures presented indicate a clear bias toward the dissemination of information for BRCA1/2, opposed to that of the Lynch syndrome, though both are almost equal in numbers of affected persons.

Interesting to note, these figures appear to be reflective of  the levels of diagnoses of the two syndromes. This may provide a good explanation of why Lynch syndrome is so underdiagnosed, while so many with BRCA 1/2 have been diagnosed. It may be a strong clue as to why physicians know little about Lynch syndrome, why it is not a priority to most organizations and why our families are being left vulnerable to the threat of cancer.

Studies are needed to determine why such a large disparity would exist. We need to understand why they exist even to the levels of professional organizations of medical professionals, genetics professionals (who are charged with the responsibility of education) and major cancer organizations.

We will be looking further into the funding of clinical studies for hereditary breast cancer and those for Lynch syndrome, as well as delve into the political aspects of legislation, what legislative measures has been effected and whether any disparities which may have improved quality of life for those with hereditary breast cancer and/or Lynch syndrome exist.

Finally, we will look at whether or not there is a strong influence, at a national level for funding for one condition, without taking into consideration, the other, and the effect it may have upon lives of those with the inherited conditions. 

The big question for those affected by Lynch syndrome is why they are not considered every bit as important as those with hereditary breast cancers by medical providers, even at the level of our major cancer institutions?

Make a call...not to your doctor, but to the heads of these institutions.  Give them the statistics and ask  the tough question---why don't you care for us, as equally as you care for those with hereditary breast cancer?  Why don't you help us live?

 

INSTITUTION/ASSOCIATION

BRCA 1 AND 2

LYNCH SYNDROME

 

 

 

James Cancer Center

11,800,000

206,000

Cleveland Clinic

320,000

8,130

Moffitt

212,000

113,000

City of Hope

250,000

14,100

Sloan Kettering

31,500

9,000

Huntsman

12,500,000

98,300

Fred Hutchinson

240,000

21,500

Baylor

20,900,000

115,000

Duke University

441,000

108,000

Vanderbilt University

18,500,000

45,300

UCLA

18,000,000

122,000

UCSF

9,550,000

23,010

Dana Farber

421,000

46,800

MD Anderson

75,200

18,300

Mayo Clinic

1,110,000

24,800

University of Texas SW

319,000

28,600

Johns Hopkins

200,000,000

161,000

Yale

25,700,000

155,000

National Society of Genetic Counselors

67,000

8,380

American Cancer Society

166,000

41,000

                                                       

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Beneath pewter skies, the magic of autumn is slowly coming to an end.  The air is thick and crisp as bare trees drip the very last of burnished crimson and golden leaves onto slumbering ground.  As we enter into the winter of 2013, it is with gratitude which equals that of our ancestors, to whom we are beholding for the lessons offered in the gift of hope, offered by a good harvest.

Thanksgiving is all about love and sharing the day with people we care about.  There is no better way to celebrate it than in the manner of those who came before us, by sharing their challenges and strengths, including our family medical histories with one another, and frolicking with joy and familial camaraderie.

In one unnamed Lynch syndrome home, which may be a bit different than the norm, the harvest table has traditionally been lively…with old and young, laughing and joking…until the moment occurs, just before dining and after “saying grace.”  It is then a round table discussion ensues as each expresses their gratitude, and how they intend to pay their good fortune forward to those in need.

It begins solemnly…ordinarily starting with Grandma. ”I am grateful I have survived these three cancers and am here today.  I am grateful for the opportunity to live, unlike those who came before us…and be with those I so dearly love… to out eat all of you, on this day of gluttony.” 

Her devoted husband reluctantly follows…”I am grateful for the support of family and friends, the medical professionals who kept my lovely wife alive, another wonderful Thanksgiving together, and for my employer offered vacation leave which I get to use to travel with my wife to exotic locations like Needles, California, to share information on Lynch syndrome with others.”

“Ah, Needles…” Grandma groans.

Following birth order, Mom speaks up, “I’m grateful for my mom and dad, who stood beside me following my diagnosis of Lynch syndrome and who incessantly nagged at me to get genetic testing--helped me duck a few bullets of evolving cancers which were discovered during my contribution of several significant body organs to my local hospital.  I am grateful to whomever developed HRT following total abdominal hysterectomy and oophorectomy, as well as bilateral mastectomy, so I wouldn’t go through the demonic episodes my mother once forced our family to endure.  And finally, I am grateful my contribution this year is to share this story instead of more body organs.”

The youngest of the family, not to be outdone, slaps her hands to her chest, lamenting, “Oh, the drama, the drama…” while mom playfully slaps her on the arm.  The youngest son offers his two cents worth.

“I am thankful my parents are still alive and able to continue assisting me in my support to live the entitled life to which I deserve, as well as take me on vacations to exotic locales with them, like downtown Needles, California.  This year, I am willing to sacrifice further, and my contribution will be to make myself available to LSI if they need anyone to travel to Miami, Florida, in mid spring, to a conference hopefully located near South Beach, where the beautiful people reside, and, of course, to exhibit on behalf of LSI.”

The youngest grandchild cries out, “Grandma, that’s not fair.  I want to go to South Beach, too!”

“No one is going to South Beach,” Grandma groans.

Though the genetics profession deems children should not be genetically tested until they turn eighteen, approximately twelve percent (12%) of Lynch syndrome families are doing so anyway, and preparing their children for a lifetime of survival.  Believe it or not, many are well adjusted, or at the very least, somewhat well adjusted, unlike those in THIS family.

Not to be outdone, Grandson Number 1 exclaims, “I am grateful I know of LS and Grandma can still cook good.   I am hopeful, this year, that her contribution may include paying my car insurance and help ease my life from experiencing the scourge of this devastating condition to which I may be predisposed so I can go to Needles, as well...”

Grandma holds her hands to her head and groans…”Oh, Good Lord.”

“And further, my contribution is when Grandma dies, I’m donating her body to science!”

Everyone laughs. Grandpa intervenes. “I really don’t know if I should ask why you would want to do that.”

The response is instant. “Because I want to see the look on the face of the medical student who opens her up and finds nothing inside.”

Grandpa nearly spits his food out, as he bursts into uncontrollable laughter—you know, the kind which brings big belly laughs and tears to the eyes.  Grandma merely shakes her head, while looking up to the sky.  He pats her hand in comfort.  “Nobody’s giving your body to science.”

Grandson Number 1 acquiesces.  “Okay, okay. Then,  I’ll go to South Beach too, instead.”

Grandma groans louder.  “NOBODY is going to South Beach.”

Two more grandchildren offer Thanksgiving sentiments:  “I am grateful for my beautiful mother and hope she takes care of herself so she won’t get cancer. And if it does happen, I will gladly take care of her jewelry, and wear it proudly as I volunteer with my uncle in South Beach.”

Grandma groans and covers her head with her hands….then bangs her fists on the table and buries her head into her hands. "I reiterate, NOBODY is going to South Beach.”

The grandson smiles in triumph and pokes the other grandchild in the side.

“You think? Your turn.”

“Oh, me? Uh, my contribution is I hope when I get tested, I am negative.  But whether or not I am or not, Grandma, don’t worry, I know we won’t be going to South Beach…you’ll find me in Orlando, with everyone else!” She sticks her tongue out at the rest.  “Nah, nah, nah, nah, nah.”

The youngest cries out, “Grandma, you're not taking her to Orlando?”

Grandma puts a finger to her mouth.  “Shhh, it's secret!

“Hooray, Living with Lynch syndrome in Orlando!” the youngest cries.

Grandpa interjects, “Okay! Enough…nobody’s going to Orlando, especially if they can’t behave.  Ya ‘all hungry?”

“Yep!  Grab it,” hollers the grandson, armed with a fork.

"I'm grateful for Orlando." the youngest says dreamily.

Hands quickly reach for bread, wine, olives, while Grandpa carves the turkey. Sounds of scraping food from bowls to plates, blends with laughter, as everyone extends their plates.

“Hey Grandpa, can I trade this thigh for a drumstick?” a voice echoes from down the table.

“Drumsticks are overrated, I want a breast!” announces the youngest.

Mom interjects, her hand covering a full mouth to conceal  laughter, “ Just got two new ones with my mastectomy.  You want the old ones? I'm sure they're around somewhere.”

Grandma groans again.  “Oh, good Lord! ”

The younger one joins in, “There you go, Grandma…now’s your big chance, if you’re getting tired of being “flat and fabulous.”

"I get no respect, whatsoever!"  Grandma casts a facetious look of disapproval, received by giggles.

"You know I love you, Mom," the daughter says.

Finally, the voice of wisdom from the Godfather, the old father, the grandfather and the great grandfather who had silently been sitting at the end of the table, amused. “Now, my turn."  Everyone falls silent and reverent, awaiting, as he clears his throat.  "I am so very grateful for all of you, that you have the ability to love one another and laugh despite the challenges and obstacles you face.  Now, THAT is truly living with Lynch syndrome! 

 

LSI joins with the thousands of other families in sharing the lifesaving information about Lynch syndrome with our loved ones, during the holidays.  We share gratitude for the over four thousand individuals who work together with LSI so hope will continue to exist and others may live.  We are thankful for the opportunity to know you and your families, your obstacles, your challenges and to witness the strength and courage in which your beautiful families thrive.  We wish each and every one a lifetime of health, happiness and love.

A special thanks to Myriad Genetics for inspiring families everywhere to discuss their family histories with one another during this time, in their current public awareness campaign. Genetic testing saves lives.  We urge every institution, every genetic counselor, and testing company, to also become engaged and join us in protecting families and saving lives through education of medical professionals, community public awareness and offering services to affected families in need.

 

Disclaimer:  This is the story of a Lynch syndrome family of volunteers, who would be crazy to identify themselves, and it is based upon a true story.  And, about Orlando…stay tuned! Life is good!  J

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Within the Annals of Oncology, ESMO has published new guidelines for the clinical management for those at high risk to hereditary cancers, including HNPCC ( Lynch syndrome and Familial Colorectal Cancer X Syndrome), APC, MUTYH Associated Polyposis.  

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ASCO publishes a long needed paper published by Victoria Raymond and Dr. Elena Stoffel on Familial Gastric and Pancreatic Cancers - Diagnosis and Screening.  Not only addressing Lynch syndrome, it speaks of the risks of the other hereditary conditions, emphasizing the importance of Next Generation Testing, which can assist in diagnosing the hereditary conditions of many in which Lynch syndrome was not detected within their family history.  

Kudos to them for finally addressing standards and guidelines for management of families with conditions previously ignored, including gastric and pancreatic cancers.  Lynch Syndrome International is grateful as up to ten percent (10%) of these cancers are diagnosed in individuals with a family history of cancer.  

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Dr. Richard Boland, at Baylor University, Dallas, Texas, has identified a reason some mutations may not appear within traditional testing in those who had a positive family history but tested negative with germline testing and not indicating a clear mutation. The explanation may be inversion of exons 1-7 of the MSH2 gene.http://link.springer.com/article/10.1007/s10689-013-9688-x

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This is a very special year for me…the 61st year of life! I never dreamed I would see it!

Today, despite undergoing five major surgeries in five years, battling a late staged cancer, and expending more lives than the average alley cat, I have lived five years longer than my grandfather or any of his six siblings, who all (except for one) died between the ages of 54 and 56 years of age.

Five years…doesn’t seem like much to the ordinary soul, but, today, when the average lifespan is 78.7 years, it equates to 6.3% of human life.  Not bad.  The great news is today, we live!

Every day, we give thanks to to genetic testing and to our wonderful medical teams.  Thank goodness, they don’t subscribe to the basic NCCN standards.  They pay close attention to family history when determining the screening tests, read the studies and don't rely upon others, without the personal knowledge of us and our family histories, to set the guidelines for us.

Had they not done what they do, today, I would be fighting the cancers of my family-- skin cancer, breast cancer and other cancers, which have occurred as a pattern in other family members.  Personalized medicine is a good thing…standardized guidelines for all, are not so good.

During this next week, following Saturday’s celebration of a wonderful year, is its aftermath--the barrage of screenings, in preparation for yet another great one!  The blood and urine tests, and urological scope have been completed. 

Urological scope?  Why, you ask? My father, his father and two of his uncles had urological cancers of Lynch syndrome.  It is simply a good idea. Lynch cancers often run in patterns within families. 

So far, no significant worries there for another year, except for some some anemia, and most likely the result of eating less red meat during the past year.  There is also the recurrance of tri-geminal neuralgia, which reentered my life after ten years, probably induced by stress, but what’s a girl to do, huh?

In my case, it is listen to the Doc, eat a balanced diet, cut back on red meat, eat leafy, colorful veggies, cut back on carbs, get some more exercise, including yoga, and take some iron supplements!  And...slow down a bit.  Therefore, unapologetically, the shop was closed this last weekend as I laid in a lawn chair with a nice, cold green tea served in a hurricane glass, and with a pretty little umbrella. Easy enough to follow...simple enough for a cave man. (Please excuse if the cave man reference offends anyone...don't want any more stressful emails from those easily offended.)

The rest of this week’s lineup?  Colonoscopy, upper endoscopy, dermatological scan (our specific mutation has the subset of Muir Torre. Sebaceous and other tumors are regularly removed,) and a kidney ultrasound.

No more extensive OB-GYN screenings for me…the breasts have been removed, as a result of the positive test of the tumor of a close family member which indicated the tumor WAS a result of Lynch syndrome, completed by another genetic professional.  (Hopefully studies will come soon, which will give a firm “yay” or “nay” or in the very least, produce guidelines, urging prudence and assessment of family history!)  With every person in our family experiencing a Lynch cancer by the age of 56, we are taking no chances here!

So, if all goes well, life will ease on for another year, and then another, and yet another!  That’s the way it is supposed to work, and you know what?  When it is done right, it does!

With immense gratitude to our physicians!

 

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Seems they are, beginning with those who may be facing a ticking clock.

 

Welcome to the genetic testing wars…we saw it coming, we feared it would occur, we tossed our two cents worth into the ring, and now that its here, it looks as though its going to get worse before it gets better.

 

This week, CIGNA is enforcing its new policy of requiring individuals who are at high risk for cancers to not only see their physician for a referral to a genetic counselor in order to detect hereditary colorectal cancer conditions (and pay another co-pay, to boot) before getting a genetic test (which requires another co-pay), but is also requiring the patient have yet another mandatory appointment with a genetic counselor (yep, you got it, another co-pay) before being advised of the results of the test.

 

Just when it seems like it can’t get any worse, it does!  Especially if one is pending a cancer... and has to make a surgical decision based upon the results of a genetic test.  Can you imagine going to your surgeon and being told he cannot order the test for you so you can make determination as to what surgery you will have or what body organs should be removed, or even be able to order that surgery until you call your insurance company, who will refer you to their contracted, telephone genetic counselor, who will determine whether or not that physician should order that test for you? 

 

Can you imagine the horrible anxiety of waiting during that time?

 

Can you imagine not being able to get the information on what treatment you should have following the surgery, unless you see a genetic counselor who will explain to you the risks of having a genetic test?  (Like the risks are far more important than treating a cancer?)

 

CIGNA has publicly stated the weight of the genetic counselor would weigh heavily than that of  the physician, and all tests would be reviewed by one of CIGNA’S physicians to determine if, in fact, the physician's prescription will stand. This is deplorable as neither have the medical experience of the physicians.  It feeds into a deterioration of health care and is a disservice to those with hereditary cancers.  Making it even uglier, the counselor is paid by CIGNA, contracted by CIGNA and, receiving its bread and butter from CIGNA would have a conflict of interest in providing healthcare recommendations.

 

This isn’t about patients or patient care or what is best for the patient.  It’s about money. It’s about the greed of the telephonic, genetic counseling corporation contracted by CIGNA and the greed of the insurance company.  It is not about seeing people you trust, your local genetic counselor, or your physician within your doctor’s office.  It is not about relationships with those who have a history of keeping you and your family safe and healthy from a life threatening condition.  And it certainly isn’t about privacy, because everything given to CIGNA, is reported to the National Life Insurance Database…you see, they are a life insurance company too. 

 

You can bet not only will you will receive a bill for four times the amount charged the average person for life insurance premiums after having a health matter reimbursed by CIGNA health insurances, but members of your direct and extended family, may as well---especially after the insurance company's contracted genetic counselor takes that "extensive" family history and discusses the past cancers with those family members, as genetic counselors sometimes do, documenting it thoroughly, and giving a copy to the insurance companies.

 

Genetic testing is supposed to be about protecting families and saving lives. Genetic counseling, when mandated, creates stress and anxiety.  When sought and desired, it brings comfort.

 

CIGNA is right. Their policy does save costs—for CIGNA, while increasing health care costs for the patient. because when it is mandated, it is a barrier to testing.  Only 14% to 48% of patients, referred to genetic testing, comply with mandated counseling. You can bet your sweet bippy CIGNA knows that.  Their decision is not about the patient. They could care less what we think.  Nobody, but their "money man," in charge of keeping costs down, has spoken with us.

 

Dr. Finley, is adamant about his stance, stating, “Though you don’t know it yet, it will be good for you and good for patients.”  He certainly had no interest in hearing what WE feel.  There was no sense in speaking with him, he had his mind made up and disallowed us to escalate to the next level with our position, advising CIGNA has given him the authority to permit or deny individuals to escalate up the ladder.  You can again bet your sweet bippy we were NOT escalated and were left to debate this issue in a public forum.

 

We have a news flash for Dr. Finley and those "bosses" of his who don't have a stomach for personally speaking with patients, insureds and those with genetic conditions…all patients should have a choice and a say in the administration of their medical care, especially in America.  This isn’t 1939 Germany.  There is no room for paternalism in today’s medical society.  Seriously, how could any ethical individual even consider this, without asking patients whether or not it would be a benefit for them? Where is the voice of the patient within CIGNA's scheme?  CIGNA, pull you head out of the sand and step into the 21st Century, into a world where everyone is deemed equal and should be allowed a voice. 

 

This isn’t about patients. Its all about CIGNA wanting to save money and reduce costs by singling out three classes of individuals with genetic cancer conditions of 700,000 different genetic conditions for a different and a disparate treatment.  THIS, is genetic discrimination, at its ugliest, and it is how CIGNA intends to ration healthcare.

 

This is about InformedDNA, a commercial genetic testing company, which in June, issued a public statement that they believed legislation should be initiated requiring genetic testing of everyone who may have a hereditary cancer syndrome. It was about money, not concern for the patient. It was part of what motivated InformedDNA to strongly endorse dropping patents, despite the face, the pharmaceutical companies were the only persons educating medical physicians.  It has nothing to do with patients, and its actions seems to violate the ethics of the genetic counseling profession.

 

For InformedDNA, it's about cashing in on the “genetics game,” and making a hefty profit. Once strong advocates and high rolling contributors to the Gay Community calling for antidiscrimination laws and equal rights and the elimination of mandatory counseling, prior to HIV testing, it is amazing they were the first to advocate to treat those with hereditary cancers differently.

 

Requiring genetic counseling, prior to genetic testing, will only put Lynch syndrome back to year 2009, when 30,000 were diagnosed, at an average of ten to twenty per year in major cancer centers. This is deplorable, when when one in every 370-440 people have Lynch syndrome and less than 10% are diagnosed. It indicates genetic counseling to be a barrier to testing when mandated. But again, you can bet your sweet bippy (and have little chance of losing it) because that's what they are banking on. As stated, they are looking at saving money. Their's is a creative way of rationing healthcare.  If you make it difficult for the patient to get something by creating annoyances and multiple hurdles to leap, most will simply give up.  The problem is, when our family members give up, they die.

 

With panelized tests now entering the market offering testing for 15 to 36 different hereditary conditions with one test, there is no “wrong test.”  Not only are the odds good a diagnosis will be made, but the odds are great that other conditions may be ruled out---that is good medicine.

 

CIGNA knows this, as well. With new technology, there is no “difficult test.” There is simply a test which is the same cost of an MRI, which is given every day, of which physicians are capable of performing and treating, especially oncology experts. The insurance company doesn’t want to diagnose patients, they want to make it difficult enough for them, that the patients will NOT get diagnosed.

 

Why? Because private insured patients only last with an insurer for six years. It is the average turnover time. When these tests come out, they don’t want to pay for them. They have no long termed bond with the insured. They want to wait for individuals to get a colorectal cancer and use MSH-IHC test which takes much longer to diagnose, but is much less expensive. They want to take the risks of having one person in a family get a cancer and essentially become a sacrificial lamb, playing Russian Roulette with cancer survival, so others in that family can live.

 

There is no excuse for MSI-IHC testing for those with colorectal cancers, when a test, which is much quicker and can allow individuals to make surgical decisions is readily available.  These new tests result in more lives saved and more money saved in the future.

 

It is about those who don't desire testing jumping hurdles and racing through hoops, spending three days of their lives, engaged with individuals who will determine whether or not they should receive a genetic test for cancers, before they will be allowed to take the test. For the patient it is an expensive game and an incredible inconvenience which will increase anxiety. It is a form of discrimination, singling them out from others with hereditary cancers, and

insinuating they are not capable of making their own choices. It puts them into a different class…a lower class and singles them out as “being different.”

 

It is about CIGNA putting out the message that their physicians are incapable of caring for them, when any blithering idiot can count to three and determine if someone is at risk for Lynch syndrome.  The One, Two, Three Rule dictates the guidelines for germline testing for Lynch syndrome....Three persons in a family with a Lynch syndrome cancer, two of which are directly related to the third and one under the age of 50.  The criteria for germline testing is so easy, even a child could do it. It isn't tough, especially since most physicians, like genetic counselors,  have four fingers and one thumb on each hand.  Whatever is Finley thinking?  There are many excellent physicians who are capable of testing individuals for hereditary conditions.  They are the ones who have dramatically increased genetic testing and raised the red flags, which brought InformedDNA running to the profit trough.

 

CIGNA's policy removes any and all choice over the needs or desires of the patient. It forces them to discuss sensitive family issues with strangers, which will be documented on insurance databases. It requires information about family members which will be submitted to the insurance company.

 

The issue isn't about genetic counselors or the value of genetic counselors, its about the convenience of the patients. Genetic counseling is a wonderful resource.  For many, its invaluable to sit across from a genetic counselor, have eye to eye contact and feel the empathy and compassion.  The CIGNA plan doesn't offer that.  It offers their own contracted genetic counseling corporation, which is reliant on them for their livelihood and which is an incredible conflict of interest and probable violation of the Genetic Counselor Code of Ethics.

 

This is about a flipping phone service where a person has to reveal intimate details about their familyto a stranger so he/she and their family members can get a life saving test...and about a stranger who is documenting it all, to put into a National Life Insurance Database.

 

Finally, it interferes with the doctor-patient relationship. The physician needs to know about Lynch syndrome to make certain the patient is managed. The patient and the physician need that bond with one another.  Their relationship may be life long.  It may last the entire career of the physician or the entire life of the patient...far longer than that voice on the phone, which is likely an intern or a recently graduated student.

 

CIGNA shouldn’t be making the testing process uncomfortable and difficult on patients.  They should be making it as easy as possible for a population such as ours, and especially since we have a LOT of battles and challenges, not only with life threatening conditions with us, but also with our families.  They should care about their insureds, not harass them or take advantage of them.  The extremely low level of sensitivity is appalling. 

 

Bottom line is everyone, no matter who they are, should have a choice regarding their healthcare and should be able to see an independent genetic counselor, if they so desire.  They should not be required to expend four days involved with appointments, and lose over $500 in costs of lost wages, co-pays, daycare, etc., on top of their payments for insurance premiums, to simply to get a simple, blood or saliva test to determine if they have an altered mismatch repair gene.

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Today, a family is gathered to support a loved one on her journey to the other side...not as the result of a colon cancer, as so many emphasize when speaking of the Lynch syndrome, while ignoring the many other cancers it presents, but for the final blow of a series of other Lynch cancers she has experienced through the years, which are often unknown to physicians.

We cannot say farewell to her…never a farewell for someone like Cynthia, for she will remain in our hearts and will always serve as an inspiration.  Through the years, Cynthia put up a incredible fight against the cancers, with an amazing sense of strength and a positive attitude.  She focused upon helping others and living outside of herself. Even as early as two months ago, in her last months of life, despite being frail and tired, she stood up and educated many in Illinois, so others could live.

As a result of her beautiful compassion, dedication to others and selflessness, we have no doubt many lives will be saved and families will remain intact. She serves as a tremendous inspiration to us all.  Our hearts and love are with her today, and with her family, who have selflessly worked alongside her and with us so very many can live.

We have several thousand families such as this.  You seldom see them on social media chat boards, talking about themselves, their colonoscopies and their fears.  You find them in the community, advocating for others, working together, playing together and giving to one another, as well as reaching out to everyone else.

Despite grief, frustration with medical apathy and ignorance and insurmountable challenges, you will find them filled with hope, and believing in miracles, despite the loss of many in their family.  You will also find them grateful for every second they are with us.  They best represent the character of those who have Lynch syndrome.  They ARE “the face of Lynch syndrome.”

Our families are mostly quiet, stable, everyday people, working in the background and making an incredible difference delivering brochures to physicians, begging journalists to write articles, correcting internet misinformation on Lynch syndrome, organizing walks and holding events to raise funding, setting up tables in their medical facilities to educate patients, exhibiting at Health Fairs, soliciting advertising companies for billboards, and even marching in parades.  You see them at Relay for Life events, Undy 500 events, and ovarian cancer events, speaking with cancer survivors—and helping them acquire the information and the strength to detect whether or not their cancer is hereditary. 

They don’t simply talk, they act.  They make things happen.  They are the ones who are making dramatic changes for an improvement in the quality of life for those with hereditary cancers.  They are the ones who are protecting families and saving lives.

Cynthia will always remain in our heart.  She is one of our treasures; one of the several sparkling diamonds who have done so much and have indelibly embossed their beauty forever upon our souls and spirits…

First, there was Rachel, who, strongly advocated in the community, until the day she emitted her last breath, after losing the battle to an appendix cancer of Lynch syndrome…then there was Todd, the young father, CJ, the young soldier, Ashley, who in her tender twenties, worked on advocacy until her final days fighting endometrial cancer, and Amy, who blogged words of faith and hope, during her entire fight with endometrial cancer.  Cynthia is joining a wonderful group of people who maintain their place on LSI’s Wall of Honor.

Because of them, the message has gotten out, that, today, we live.  With genetic testing and regular screenings, there are many of us who, unlike those who came before us, will never experience cancer.  Of the thousands in our ranks, to our knowledge, we are only aware of a loss of fifteen, during a four year period of time.  Thanks to awareness, modern technology, changing our lifestyle habits and having a positive attitude, we have a great shot at life...

Our hearts and our love are with everyone during this very difficult time in Cynthia's family, and with every family who has to perform the most difficult of the rites of passage, including helping their loved ones travel toward the next stage in their journey, following life.  Please know, through it all, the thousands of us are here and always will be for you, inspired by those who came before us and who live within our hearts. We will always remember. For us, there is never a farewell.

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It is that time again!  The Annual Mayo Clinic Living With Lynch Syndrome Day, September, 14, 2013, Bloomington, MN. ---

 
Sponsored by the Minnesota Association of Genetic Counselors, Minnesota Oncology, Myriad Genetics, Lynch Syndrome International and Get Your Rear In Gear....

Fifth Annual Living with Lynch Syndrome Conference

 
For those of you making travel plans, here are some details:

Location: Minneapolis Airport Marriott ($95 rooms available Friday and Saturday nights when you book before August 23 and indicate you are attending the Lynch syndrome conference)

http://www.marriott.com/hotels/travel/mspmn-minneapolis-airport-marriott/ 

2020 American Blvd E Minneapolis, MN 55425

Ph: (952) 854-7441

A website for registration will be available after 8/12 to register. Conference fee is $25 per person.

Program Schedule: Saturday, September 14, 2013

Location:  Minneapolis Airport Marriott
2020 American Boulevard East
Bloomington, Minnesota 55425 USA
952-854-7441
http://www.marriott.com/hotels/travel/mspmn-minneapolis-airport-marriott/

8:30 a.m. Continental Breakfast Meet & Greet (optional)

9:00 a.m. Welcome and Introductions
Carrie Zabel, MS, CGC
Myriad Genetic Laboratories, Inc.
Laying a Foundation – Lynch Syndrome Basics

9:15 a.m. Lynch Syndrome Primer and Guideline Updates
McKinsey Goodenberger, MS, CGC
Mayo Clinic Department of Medical Genetics
Underlying biology, terminology, cancer risks, inheritance patterns and general screening recommendations.
Building on the Basics – Reducing Cancer Risk

9:45 a.m. Colorectal Cancer Screening and Surgery
Lisa A. Boardman, MD
Mayo Clinic Division of Gastroenterology and Hepatology
A discussion of basic and advanced issues relevant to colonoscopy, from how your preparation influences the quality of the procedure to evolving techniques for optimal visualization, the progress of alternative methods to traditional screening and a review of alternatives for surgical management of individuals diagnosed with colon cancer in the setting of Lynch syndrome. 

10:30 a.m. Gynecologic Screening and Surgical Options for Women with Lynch Syndrome
Myra Wick, MD, PhD
Mayo Clinic Department of Obstetrics & Gynecology
Mayo Clinic Department of Medical Genetics
Review of both screening and preventive surgical options for women with Lynch syndrome including risks, benefits, and future implications on health.

11:00 a.m. None of the Above, All of the Above: “Other” Lynch-associated Cancers
Shari Baldinger, MS, CGC
Virginia Piper Cancer Institute – Allina Health
Overview of other cancers prevalent in Lynch syndrome families and a review of medical management options. 

11:30 a.m. Parallel Experiences: Finding Common Ground
A panel of individuals diagnosed with Lynch syndrome will share their experiences. What are the burdens, blessings and most significant challenges? How do points of view vary among families and family members? Hear how Lynch syndrome has impacted the lives of others.

Beyond the Basics – Recent Advances and Future Directions

12:00 p.m. Lunch

12:30 p.m. Update on Lynch Syndrome
Noralane M. Lindor, MD
Mayo Clinic Arizona Department of Health Science Research
Participants will learn about emerging new discoveries relevant to Lynch syndrome.

Delving Deeper – Selected Topics

1:05 p.m. Break-Out Sessions: Selected Topics on Lynch Syndrome

Choose up to (4) of the following sessions:
Gaining Control and Improving Attitudes

Effective Communication with Health Care Providers

Family Communication

Sexuality Concerns for Women Post-Hysterectomy

Nutrition and Health 

Advocacy

Cancer Survivor Support Group

Caregiver Support Group

Previvor Support Group

3:40 p.m. Privacy and Insurance Discrimination
Kathleen Meyerle, JD
Mayo Clinic Legal Department
A review of privacy and insurance concerns for individuals with genetic conditions. 

4:00 p.m. That Henry Lynch
Anna Leininger, MS, CGC
Minnesota Oncology
An introduction to the man behind the name. 

4:10 p.m. Living with Lynch Syndrome
Henry Lynch, MD, PhD
Chair, Department of Preventive Medicine
Professor of Medicine
Creighton University School of Medicine

5:00 p.m. Adjourn

*Program is subject to change
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Okay…something interesting happened today.  Just for fun, I decided to check out the NCI’s tools for physicians, which helps them determine the risk of their patients for colorectal cancer and breast cancer.  I couldn't resist the opportunity, as the tools had been on their website for a few years and were developed by their researchers.  I was curious about what it may relay...maybe my odds would be better!  It wasn't likely, however, as I am a Lynch syndrome, colorectal survivor, through my father’s side of the family with an additional risk through my mother’s side of the family, where a family history of colon cancer, gastric cancer and breast cancer exists.

Nonetheless, a miracle occurred!  The government developed test determined I was at a far less risk than thousands of research studies indicated.

I think it was a matter of not considering family history as extensively as needed for tools such as these.  You see, within my father's side of the family, my brother, sister, aunt (his only sibling) and me all contracted colorectal cancer. My sister also sustained endometrial cancer and breast cancer.  My father contacted renal pelvic cancer, ureter cancer, and esophageal cancer which resulted in bone metasteses and his only sibling, my aunt,  (mentioned above) fought two bouts of colon cancer and ovarian cancer. My brother, sister and I have also had skin tumors removed as have my father and my aunt.

My father’s father passed away from heart failure with an underlying cause of gastric cancer.  His uncle passed away as a result of colorectal cancer, his aunt had lung cancer and a “women’s cancer,” another uncle had kidney nephritis, which they believed to be kidney cancer.  Two more of his aunts and uncles passed away from heart failure, which the family advised they thought there was an underlying cancer as well.  My father’s grandmother had diabetes, kidney nephritis and what was thought to be kidney cancer.  Had there been adequate diagnosis of cancer and cancer care then, the family would have been an oncologist's dream, or greatest nightmare, dependent upon how you look at it.

My father's father and aunts and uncles died between the ages of 54 and 56, with the exception of his grandmother and one uncle.  All of us, except my father, were diagnosed with cancers between the age of 50 to 57, except my father, who was diagnosed at 61.

On my mother’s side, she suffered from a breast cancer at the age of 42 and again at a later age, according to a brother, her mother had breast cancer, her father had gastric cancer, and a nephew had colon cancer.  Other cancers are reported from that side.

We are a multi-racial family, of Caucasian, Black and Native American heritage.

As a result of the high risk of breast cancer in the family with my mother and grandmother, along with a Lynch syndrome diagnosed breast cancer, most the women in our family have undergone double masectomies.  Today, we are living longer...

That said....

The results of the breast cancer test indicated I had a 6.6% risk of acquiring breast cancer during the next five years and a 26% risk of developing breast cancer during my lifetime.  (The average risk for lifetime risk for women is 8%)

Apparently, my odds were better than my sister, my mother and my grandmother…the only women from my mother’s side of the family, all contracted breast cancer,, but me!  And had I taken this test, I would have found out, as the government had it all figured out, even with the tool  not taking into consideration third generational risk (grandmother) or allowing entry of more than one race.  I wonder about the women who were half white or half Asian, Hispanic, Black, Native American….how not allowing the second race will affect their outcome. The risks by the NCI were hopeful bud sadly unrealistic, as 

In actuality, my risk is far higher. The breast cancer risk alone in considering possible BRCA gene mutation would be a 45% lifetime risk.  With Lynch syndrome, the risk is four fold the average risk or about 35%.

Fascinated by the discrepancy in these results, I then took the colorectal cancer risk test.  It was stated it was not an appropriate test for those with HNPCC.  But I really don’t have HNPCC, since that is an outdated term…I have Lynch syndrome.  It didn’t state anything about Lynch syndrome. Using the term HNPCC, in itself, is a barrier to testing or diagnosing cancer risk.

Nonetheless,  I determined to take the test as if I was someone I was five years ago, before I got a cancer and a Lynch syndrome diagnosis.  The results determined I had a 13.7% risk of acquiring colorectal cancer during my lifetime and a .05% risk of colorectal cancer within five years.  Again, it didn’t allow more than one choice of ethnicity. 

Due to Lynch syndrome, and within the real world, my lifetime risk is 82% for colorectal cancer, based upon having Lynch syndrome, alone.  Being of black heritage, that risk may increase and may be compounded by entering into the age of the "new 50s."  (Can't bear the pain of saying, six... six... six... six.....well you get the idea. :)

With physicians utilizing tools such as this, which they find on a governmental website, and not being provided the necessary information about Lynch syndrome and BRCA, it is no wonder Lynch syndrome and BRCA are NOT being diagnosed as often as they should be.  Tools such as these, without the information put upon the actual front page of the test, are a barrier to those who are at high risk.

It is amazing such a tool is being used for physicians to use for breast and colorectal cancer risk to determine testing….well, we called them.  Unfortunately, with the NCI, the Public Inquiries Officers make the responses to the public.  We did leave a message, however, of concern, about these tools. 

You know what?  We can do better.  We (as a partnership all working together) can add the risk of the hereditary cancers to the tool to protect families and save lives…we can add family histories to those tools and we….can make certain a good estimate of risk will be provided to physicians so they can do their job in accurately assessing risk for cancers.

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Where do we go from here? While InformedDNA is encouraging genetic counselors and insurance companies to move backward, we are thinking and moving forward.  We have asked to speak with the CEO of Cigna Insurance.  We will let you know when and if an appointment is made.

As well, we should probably take a little jaunt up to Minnesota and try to see if the CEO of United Health Insurance will speak to us regarding the difficulties in getting individuals genetically tested through their company, in some areas of the country. We have had experience with him and know him to advocate for genetic testing.  We will have to see how receptive he will be.

A while back, we spoke to a representative with a health cooperative, in California, which was mandating some individuals drive over a hundred and fifty miles to visit a genetic counselor in order to obtain a lifesaving test, covered by their organization. They stated they wanted to do the testing themselves, however the insurance company was requiring it.

Of course, the individuals didn't go and they didn't get the test either.  Being required to take two days off work, without wages, and another day off to see the doctor who sent him to the genetic counselor, pay the high cost for gas and childcare, parking, fuel and bridge tolls, as well as the co-pays for the two visits and for the lab test, as well as the hotel rooms, the costs for the genetic test for the gene his family would have more than doubled, with him paying the price. At this point, they are considering if perhaps an attorney would be more beneficial in assisting them get a genetic test for Lynch syndrome .  We referred him to an outside doctor who will test him and they will appeal the insurance company's decision, with another attorney standing by.

Since 2009, LSI has been promoting public awareness and educating physicians about Lynch syndrome. It has been effective.  Every day, we hear from individuals who have been tested as a result of our public awareness or education efforts, mostly by physicians with whom our volunteers have met personally and shared information.

We were the first advocacy organization in the U.S. for Lynch syndrome and we have worked hard.  Unlike other nonprofit organization, the majority of  our funding came from our families, some of them emptying savings and retirement accounts to protect families and save lives.  None of it comes from governmental sources and very little from corporate sponsors.  

We are a true nonprofit organization.  Every person involved is a volunteer.  Most pay their own expenses for their local volunteer initiatives to educate medical professionals and create public awareness within the community. Our nationwide volunteers work in over 400 communities per year, educating physicians, sitting in hospital lobbies and working hard to get the word out.  They have opened their hearts and their lives, sharing intimate family deals of their health with the media, and well over a hundred thousand brochures to medical professionals and the general public, so others could live.

This shouldn’t be a patient responsibility, but we have no other choice if we wish for our families to live. It is an immense challenge we have undertaken and one we are passionate about. 

Experts have stated the biggest failure of medical professionals is with Lynch syndrome.  We take it a step further...it is the biggest failure of some medical institutions, teaching institutions, some genetics professionals, genetic counselor organizations, medical schools and medical associations. Being in a position of trust, they have all let the Lynch syndrome community down.  After two decades of failing, we, the patients, working with others, have carried the torch and our volunteers have educated over 100,000 physicians.

We are sitting back pounding our heads on desks, watching as Cigna and InformedDNA try to take us back to a time when nobody was tested...and famiies died.  It didn't work then and won't work now.  A choice is imperative.

We have a lot of work to do, but the first is to make certain those with the Lynch syndrome have a choice in their medical care, they are not treated differently and disparately than others and the persons providing the care do so in a compassionate manner, with sincerity and competence. The Cigna plan doesn't propel us toward the future, it pushes us into the background and into the past.  It distances us from our relationship without medical teams and discourages genetic testing.  America is all about choices, freedom and being equal.  We deserve the same.

We believe our annual management programs should be determined and managed by medical professionals and not genetics professionals, most of whom do not have a cancer clinical background. We believe if we wish to consult with someone, it should be with our medical professionals or experts in cancer, not someone trained solely in risk assessment. A number of genetic counselors, even those working within major cancer centers. have little experience with those with the Lynch syndrome.  In fact, only one percent of those with Lynch syndrome are diagnosed through hospitals and institutions. Most are diagnosed within the community.  It is a dismal failure.

Some of the top research hospitals and HMOs in the United States diagnose an average of only ten to thirty patients a year with Lynch syndrome. With eight to fifteen genetic counselors in each of those institutions, even the most experienced are diagnosing less than five or ten persons a year, from a base of millions in their population centers.

In the meantime, we are seeing physicians, within the community, testing and diagnosing eight to fifteen people per year, with Lynch syndrome--more than diagnosed in your average cancer center.  Many of these physicians are actively looking for these families and taking family histories upon initial visits. Colorectal surgeons are conducting tumor testing to detect those with hereditary cancers. Some have over a dozen patients.  Today, the majority of diagnoses are not being completed by Accredited Genetic Counselors but by these physicians, nurses and physician assistants in the community. It is simply wrong and backward to create a distance between physicians and patients with hereditary concerns and push us back into the 1990s.

We have many challenges ahead, including keeping our physicians and medical teams involved in the detection of Lynch syndrome within our families and the management of our cancers.  If they are not involved in the actual testing process of Lynch syndrome, they will not be referring patients to the genetic counselors and nobody will be diagnosed.  We cannot go back to where we were in 2009 and the ever constant circle of members of our families dying, when only genetic counselors were involved in the process.  It didn’t work.

 

 

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We are entering into the Wild West of genetic testing and detection of hereditary cancers, specifically with Lynch syndrome and BRCA1 and BRCA2.

As a result of the Supreme Court decision, besides the approximately twenty companies who were selling tests for Lynch syndrome, there will be considerably more.  Everyone wants to get into the game, anticipating big money for testing, with dozens of Next Generation panels which will soon be hitting the market.

These panels will test for various hereditary conditions. Those individuals who have not been diagnosed for other conditions and who were negative for Lynch syndrome could now be diagnosed with Juvenile Polyposis Syndrome, FAP, APC or MAP or a variety of other similar conditions and more families will be protected and lives saved from other lessor known hereditary cancers.  

Though these tests could never be the “wrong test,” because of all the opportunities to diagnose alternative hereditary conditions they offer, we anticipate those larger institutions focused on cost savings will use the old tests and take their chances on NOT expanding the field of detection.  We are going to work harder on public awareness to make certain they don't, so we can continue to move forward and our families can live.  Though, we will have some challenges, primarily with the quality of tests, who will give the tests and choices afforded to those affected by the hereditary cancer conditions.

Some tests will be better than others.  Some will only test for a few mutations, some may test for many mutations of various hereditary conditions.  Some will only test for a few genes of Lynch syndrome and some for more.  Some will not be able to detect variants of an uncertain significance, some will have a large database of those variants, dependent upon their own resources for research and length of time in performing genetic testing.  It will be even more difficult to manage the number of variants of an uncertain significance.

Some will be produced in laboratories which are licensed, some may not.  Some tests may be run through twice to insure results, some will only be run through once.  We may even need, in the future, to request a confirmatory test for negative results, which has not existed in the past, due to the ability to assess the dozen and a half tests currently on the market.  As the number increases dramatically, it will become more difficult.

As a result of little regulation on Lynch syndrome testing and long termed neglect of the syndrome, we now need to take a “watch dog” approach, to assess all the manufacturers, from the garage labs (basically laboratory middlemen) to the major labs and assess their capabilities.  For the first time ever, we may need to assess each and every laboratory and report their abilities for detection and level of quality for patient protection, as well as the insurance companies and whether or not they are providing the best service to our families and the best testing to insure the lives of ourselves and our family members.  This will be costly for us and we will need to raise the funding for it, as a result.

We may need to monitor the insurance companies, the professional medical organizations and the institutions to make certain they are caring for our people, diagnosing them in an ethical manner and not solely in a low quality, cost saving manner. Many of us, who are cancer survivors had to fight to win the game of cancer Russian roulette and live with life long effects, as the result of the medical profession trying to save on diagnostic testing, and are adamant that pattern not occur within our families.

Genetics is a big game today, with big money involved.  We have personally experienced excellent examples of this during the past year as we saw the sides line up against one another in the patent case…and more so during the past month since the decision, finding most not concerned about the bottom line, the patient…but more concerned about how they will get into the genetic game and make some big and fast cash, such as we just experienced and are now experiencing.

Bottom line is there are big problems brewing out there in the genetics world…most affecting us and our quality of life.

All we desire is for quality testing for our people who are affected for Lynch syndrome, in a comfortable environment and coupled with health services which will take the stress off an already overburdened family.  All we and our families want is the opportunity to live.

Is that too much to ask from a segment of the population who has historically handled immense challenges in a positive and dignified manner?

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7/26/2013  We spoke with an office of individuals in Boston, Massachusetts, involved with InformedDNA today, and who are financing the venture to MANDATE pre and post genetic counseling as a condition to receiving lifesaving genetic testing services through Cigna Insurance. This not only removes personal choice of provider or delivery of services, but would make our families responsible for co-pays for each service. In requesting the name of a responsible party to speak with to deliver the patient perspective, we were refused.
 
"We are all responsible," the management representative stated, refusing to give a name and for the fourth time in two days insisted on provision of a phone number. We advised we had given it several times previously and nobody called back. We told her it was important we speak with someone of responsibility as our families were dying.  She responded with, "If you have a medical emergency, we suggest you call 911." 
 
We have a valid concern about the lack of sensitivity to individuals with hereditary conditions from this organization and are concerned whether or not they will be able to furnish the services in a warm and supportive manner, as previously received by medical professionals within our local communities and local community genetic counselors.  We are very strongly concerned when they refuse to listen to a patient voice.
 
We are very concerned about Cigna's mandated policies, without providing choices to patients.  We are very concerned about what we perceive as discrimination in being targeted for MANDATED counseling, of ALL the genetic disorders in existance.  This isn't about benefit for the patient...clearly, with the response from the individuals involved in the "for profit" genetic counseling corporation, there isn't a consideration for the families.  It is all about money...
 
The company was advised we intended to share this information with those involved with hereditary cancer care.
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