GEN Exclusives

More »

GEN News Highlights

More »
Mar 22, 2013

New Recommendations for Genetic Reporting

  • The American College of Medical Genetics and Genomics (ACMG) released landmark recommendations on the handling of incidental findings in clinical genome and exome sequencing. A report of the recommendations, led by Robert C. Green, M.D., a medical geneticist at Brigham and Women’s Hospital, outlines for the first time a minimum list of genetic conditions, genes, and variants that laboratories performing clinical sequencing should seek and report to the physicians that ordered the testing—regardless of the original reasons for which the test was ordered.

    “If, as expected, these recommendations are adopted by laboratories and clinicians, they will have important implications,” says Dr. Green. “As clinical sequencing becomes more widespread, laboratories are looking for guidance on how and what should be communicated to clinicians when results are analyzed. These recommendations will allow a small percentage of families to learn unexpected but potentially life-saving information about an illness they may have never suspected they were at risk for.”

    “Incidental findings” are health-related interpretations of a patient’s genetic code that are unrelated to the primary reason for ordering the genetic testing. For example, if a clinician orders exome or genome sequencing to analyze genes related to a patient’s cardiac condition, the laboratory will already have information about all the other genes in hand and could examine genes for something like cancer predisposition with relative 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,” says 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.

    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 findings. The Working Group also recommended that adult-onset conditions on the list be reported even when the patient is a minor.

    Dr. Green acknowledges that these recommendations diverge from current practices in medical genetics, explaining, “Sequencing offers a brand new way of looking at genetic testing. The Working Group believes that when we can detect findings that could provide clues to a dangerous condition for which a medical intervention may be possible, laboratories and clinicians have a responsibility to alert the patient’s physician, as is done in the rest of medical practice.”

    The report makes it clear that the recommendations are a starting point that will and should be updated regularly as scientific evidence accrues about genetic conditions. The ACMG says it will establish an ongoing process for updating the recommendations.


Add a comment

  • You must be signed in to perform this action.
    Click here to Login or Register for free.
    You will be taken back to your selected item after Login/Registration.

Related content

Jobs

GEN Jobs powered by HireLifeScience.com connects you directly to employers in pharma, biotech, and the life sciences. View 40 to 50 fresh job postings daily or search for employment opportunities including those in R&D, clinical research, QA/QC, biomanufacturing, and regulatory affairs.
 Searching...
More »

GEN Poll

More » Poll Results »

Stopping Research Fraud

What is the best approach to curbing scientific misconduct and outright fraud?