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The Wild, Wild West of Genetics Testing

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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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