The Value of Genetic and Genomic Technologies Workshop Summary (2010) / Chapter Skim
Currently Skimming:
2 Tumor-Based Screening for Lynch Syndrome
2 Tumor-Based Screening for Lynch Syndrome
Pages 5-18
The Chapter Skim interface presents what we've algorithmically identified as the most significant single chunk of text within every page in the chapter.
Select key terms on the right to highlight them within pages of the chapter.
From page 5... ...
A subset of these mutations cause Lynch syndrome, sometimes referred to as hereditary non-polyposis colorectal cancer (HNPCC) because individuals with the syndrome tend to have a relatively small numbers of polyps.
|
From page 6... ...
Who Is Lynch Syndrome Screening for? Screening for Lynch syndrome in a patient with colorectal cancer combines initial testing of tumors with mutational analysis to definitively diagnose the presence of MMR gene mutations.2 A diagnosis of Lynch syndrome may have some effect on the patient's treatment as well as on monitoring for colorectal cancer recurrence and for other cancers associated with Lynch syndrome (e.g., increasing the frequency of colonoscopies or considering a prophylactic surgery, such as a hysterectomy and salpingooophorectomy, which are used to reduce the risks of endometrial cancer and ovarian cancer in women)
|
From page 7... ...
There are also effective interventions if precancerous polyps are detected. Because of these facts, EGAPP has recommended offering screening followed by confirmatory genetic testing for Lynch syndrome in individuals newly diagnosed with colorectal cancer to reduce morbidity and mortality in relatives (EGAPP Working Group, 2009)
|
From page 8... ...
However, it was decided after significant ethical consultation that informed consent was not needed for the tumor-based screening because it was not considered genetic testing but rather screening for susceptibility. PANEL REACTION Patient Advocate Perspective From the perspective of the Colon Cancer Alliance, the oldest and largest national patient advocacy organization in the United States dedicated to colorectal cancer, there is great value in Lynch syndrome screening.
|
From page 9... ...
What assurances are there, he asked, that the test results will remain private? Spiegel also raised concerns about informed consent, noting that tumor screening, while perhaps not a "genetic test," does suggest the presence of a specific genetic mutation, and the result is the same from the patient perspective -- the patient either does or does not have Lynch syndrome.
|
From page 10... ...
To prepare for this data-rich future, Boguski has begun a training program for HMS clinical pathology house staff to bring them up to date on genomics and personalized medicine, specifically the state of the field and the technology being used. Boguski concluded by noting that while the discussion at hand is about Lynch syndrome, the larger issue to be addressed is the ability to carry out individual genetic tests for 24,000 genes, the movement toward genome sequencing, and the software and decision support systems that will be the primary diagnostic modality in the near future.
|
From page 11... ...
For Lynch syndrome, for example, while the focus is on identifying affected relatives, it is also very important from the health plan perspective to look at the proband, because the treatment course for that patient will change if he or she has the genetic disorder. As such, Select Health feels it is important that coverage be applied to the Lynch syndrome test.
|
From page 12... ...
In this regard, the activities occurring now at state, local, and private levels regarding genetic testing are very attractive, Lyman said. The key questions concerning genetic testing are whether the ends justify the means and whether the means justify the ends.
|
From page 13... ...
Williams pointed out that while the Genetic Information Nondiscrimination Act of 2008 (GINA) prohibits discrimination based on genetic information, it does not prevent discrimination based on manifest disease; that is, predispositional testing and the information obtained thereof are protected, but people who already express a disease are not protected under GINA for the purposes of insurance and employment.
|
From page 14... ...
However, even this type of arrangement raises the larger issue of where to find resources to support the generation and analysis of this evidence. In this case, the IHC, MSI, and gene testing were done by a university under grant funding, and Intermountain Healthcare used available resources to support staff time to analyze the data and populate the models.
|
From page 15... ...
Burke observed that Lynch syndrome testing is an example of an emerging paradigm that falls somewhere between the individual patient care model of medicine and a public health model. The major benefit of tumor testing in one individual appears when other family members are tested and measures are taken to prevent cancers in those who are positively identified as having Lynch syndrome.
|
From page 16... ...
In this regard, Williams said, Intermountain Healthcare made a decision, in conjunction with its pathologists, to not conduct Lynch syndrome screening tests in house. While it was agreed that conducting the testing in house would bring money into the system, it was also determined that Intermountain did not have as high a level of expertise as others, and sending the tests out would provide better quality of care.
|
From page 17... ...
If, for example, a karyotype and fluorescence in situ hybridization (FISH) analysis costs $800 and a whole genome sequence costs $1,000, it would make economic sense to pursue an automated system that can provide readouts on the genetic burden for numerous diseases, rather than conducting one specific diagnostic test.
|
Key Terms
This material may be derived from roughly machine-read images, and so is provided only to facilitate research.
More
information on Chapter Skim is available.