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For the first time, recommendations offer guidance about incidental genetic findings
Date:3/21/2013

elative ease. Should a known or suspected mutation be found in a cancer predisposition gene, the laboratory would report this incidental findings back to the ordering clinician, and the clinician and patient could take steps to screen for cancer. However, in the absence of accepted guidelines about which variants to search for and which results to return to the clinician, laboratories have been uncertain whether to search for or report results beyond those that the doctor ordered.

"We are at an early stage in the implementation of genomic medicine, and this is a difficult topic to manage because there is not yet much scientific evidence to support whether returning incidental findings can provide medical benefit," said Dr. Green. "Based upon existing evidence and clinical judgment, our Working Group of medical geneticists, genetic counselors, ethicists and molecular laboratorians reached consensus that a small number of conditions, genes and variants were likely to have a positive impact on the health of patients and their families if incidentally identified and reported."

In assembling this list, the Working Group prioritized the disclosure of disorders where:

  • Preventative measures and treatments exist
  • Patients might not experience symptoms for a long period of time
  • The genetic mutations are well recognized and known to have a strong link of causation

Examples of diseases recommended for disclosure include rare hereditary cancers and rare heart diseases that could result in sudden cardiac death. The full recommendations are available on the ACMG's website.

Because clinical sequencing is an entirely new technology, the recommendations include several provisions that deviate from established practices in medical genetics. For example, the Working Group did not recommend giving patients a choice of whether or not their physician would receive positive results from the list of recommended incidental fin
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Contact: Tom Langford
tlangford@partners.org
617-534-1605
Brigham and Women's Hospital
Source:Eurekalert

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