Incidental Findings on Exome
ACMG (American College of Medical Genetics) released their statement of recommendations for how/what secondary or incidental findings should be released with complex genetic testing known as Whole Exome Sequencing/Whole Genome Sequencing is ordered for a patient. For those are that are not familiar with Whole Exome or Whole Genome sequencing, this is a relatively new technology where nearly all of an individual’s genes (or at least the functional portions of their genes) are spelled out and evaluated for errors known as mutations. This can be extremely valuable in a clinical setting when a patient has symptoms that do match a clear syndrome or isolated clinical genetic testing is not other wise available, or there are many genes associated with the same syndrome/clinical features. The challenge is that it is almost too comprehensive. Because it is evaluating nearly all of the genes, it is ALWAYS going to result in secondary or incidental findings that are not related to the patient’s symptoms. These long awaited recommendations provide some guidance to the laboratories with how/which of these secondary or incidental results should be reported.
The report concludes: “In summary, the Working Group has recommended that when a report is issued for clinically indicated exome and genome sequencing, a minimum list of conditions, genes and variants should be routinely evaluated and reported to the ordering clinician who can place them into the context of that patient’s medical and family history, physical examination and other laboratory testing.” It further stated, “The Working Group recognizes that this list should, and will, evolve as further empirical data are collected on the actual penetrance of these variants, and on the health benefits and costs that might follow from their disclosure as incidental findings.”
This is important for clinicians to be aware of because the majority of the 50 genes on this list include genes associated with cancer. This means that a child being evaluated for multiple birth defects and developmental delays could have a mutation in a gene that is known to cause cancer (such as BRCA1 or BRCA2). The child is not expected to develop symptoms in the near future (if ever), but may have a substantially increased risk for cancer as an adult.
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Why are genes such as this included in the recommended list to be released? Well….the group concluded that knowing about a mutation in the current list of genes may have significant potentially life saving benefits include treatment options for the patient as well as other family members. It is expected (based on limited data) that a finding in one of the 50 genes included in the list will occur in approximately 1% of all results. Naturally, the report also strongly recommends appropriate pre-test informed consent and pre-testing and/or post-testing genetic counseling. This is crucial for families to be able to understand this complex information which may inadvertently be providing information regarding a parent’s risk for certain diseases as well. Genetic counselors are the ideal care provider to provide families and clinicians with answers about this new and exciting technology which has already been proven as an incredible tool for expanding our understanding of genetic disorders and providing diagnoses for families that may have been searching for answers for years.