#139 Genetic Testing in Primary Care
Published February 11, 2019
84 min
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    Join us at the forefront as we talk genetic testing in primary care with Dr Dallas Read, esteemed gynecologist and **the only** medical geneticist at Tufts Medical Center. Topics include: what internists should be comfortable testing for in the office, how and when to refer for screening, what tests to order, how to interpret test results, how to handle direct-to-consumer results or requests, and so much more! For years, the medical community has been talking about the immense potential for genetic testing to guide diagnosis and treatment. But has it realized its full potential? The answer to that seems to be a resounding no at the moment--but the days of ubiquitous genetic testing to identify disease and disease risk may not be so far off after all. ACP members can visit https://acponline.org/curbsiders to claim free CME-MOC credit for this episode and show notes (goes live 0900 EST).

    Coming to you from the Curbsiders, we hope you’ll enjoy this latest episode about the genes you wear, whether you want to put them on or not. Genes, Genes, they’re (maybe) good for your heart. But do patients want to know if they are, or if they aren’t?

    Full show notes available at http://thecurbsiders.com/episode-list. Join our mailing list and receive a PDF copy of our show notes every Monday. Rate us on iTunes, recommend a guest or topic and give feedback at thecurbsiders@gmail.com.


    • Written and produced by: Nora Taranto MS4
    • CME questions by: Nora Taranto MS4
    • Hosts: Stuart Brigham MD, Matthew Watto MD, Nora Taranto MS4
    • Images and infographics: Beth Garbitelli MS1
    • Edited by: Matthew Watto MD, Chris Chiu MD
    • Guest: Dr. Dallas Reed MD


    Check out the ACP's Medical Knowledge Self Assessment Program, MKSAP 18.

    Time Stamps

    • 00:00 Announcement
    • 00:37 Sponsor: ACP’s MKSAP 18
    • 01:04 Disclaimer, intro, guest bio
    • 06:31 Guest one liner, book recommendations, career advice
    • 12:23 Cohost picks of the week
    • 16:22 Sponsor: ACP’s MKSAP 18
    • 18:12 Dr Reed walks us through the genetic machinery from the top down (genome, chromosomes, exons, genes, SNPs, and epigenetics)
    • 26:18 A clinical case of Jeanne Sequence; What are the indications for genetic testing?
    • 29:54 What is actually being tested?
    • 33:57 What is the turnaround time for testing? What resources are available for counseling? Why is this challenging in primary care?
    • 38:58 Variant of Uncertain Significance
    • 41:22 Direct to consumer genetic testing
    • 44:54 Back to our case of Jeanne Sequence; How to take a history for patients with family history of breast cancer.
    • 50:41 Guidelines on use of genetic testing; Deciding which family member to test
    • 59:49 Laws about genetic testing and discrimination; How does this effect life insurance or disability insurance eligibility
    • 63:47 Is routine whole genome testing practical? Will this be commonplace in the future?
    • 68:22 What genetics resources are useful for primary care practitioners?
    • 72:13 Cost of genetic testing
    • 77:32 Take home points
    • 82:57 Outro
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