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New report offers a primer for doctors' use of clinical genome and exome sequencing
Date:6/18/2014

to as whole-genome or whole-exome sequencing, they don't cover 100 percent of the genome or exome. Because of the way the target DNA sequences are gathered and assembled, not all of the DNA can be sequenced and the technique is best at detecting single-nucleotide variants, or alterations in sequences of no more than 8-10 base pairs. It may not pick up longer variations or repetitions of sequences, or long deletions that are responsible for some genetic disorders.

  • Patients for whom the technology is most promising are those with rare disorders that seem to be the result of variants in a single gene. Physicians should explore family historythe presence and pattern of similar disorders among relativesand should carry out an extensive literature search before ordering exome sequencing. Informed consent is essential.

  • Exome sequencing may not provide a diagnosis. On average, about 25 percent of such tests identify a gene variant that causes disease; most come up empty. Because of the technology's gaps, however, a negative result doesn't necessarily rule out a genetic cause for the disease.

  • Most of the time, identifying a genetic cause won't lead to a cure. Even in these cases, exome sequencing may still be useful because it can end an expensive, potentially invasive and stressful, diagnostic odyssey.

  • Analysis of the results may produce incidental findingsdiscovery of a gene variant that is unrelated to the patient's primary disorder but that could cause disease and require medical surveillance or treatment for a separate condition.

  • Counseling patients and their families about what to expect is essential, but challenging because the patient may be disappointed with an inconclusive outcome of such an extensive and expensive test.

    In their NEJM article, the authors make clear that exome sequencing will be used across a spectrum of medical specialties and not just by geneticists. "We think th
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  • Contact: Raymond MacDougall
    macdougallr@mail.nih.gov
    301-443-3523
    NIH/National Human Genome Research Institute
    Source:Eurekalert

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