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DTC genetic tests create conundrum for physicians, unrealistic expectations for patients

March 01, 2016

1. DTC genetic tests create conundrum for physicians and unrealistic expectations for patients
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Direct-to-consumer (DTC) genetic testing may create unrealistic expectations for patients and a conundrum for physicians who largely feel unprepared to discuss test results. The study results are published in Annals of Internal Medicine.

Several companies offer DTC genetic testing, which allows patients to acquire a range of personalized health information about everything from ancestry to disease predisposition. Use of at-home genetic testing is controversial because complex information is given directly to consumers who may feel confused or anxious about their results. There is also concern about downstream effect to the health care system when patients seek out unnecessary health services.

Using data from the PGen (Impact of Personal Genomics) Study, a large, longitudinal study of actual users of 23andMe and Pathway Genomics DTC genetic tests, researchers described the characteristics and perceptions of consumers who shared their results with their doctor or other health care provider. They found that a minority of consumers took their genetic test results to a health care provider, but most of those who did were satisfied with the discussion of results. For the minority who were unsatisfied with the physician encounter, the physician's inability to adequately answer the patients' questions and concerns could be to blame. The authors suggest that patient perceptions and expectations may influence their attitudes. They say that given the increasing importance of genetic concerns in primary care, physicians should be trained to at least engage in a discussion about these tests.

The authors of an accompanying editorial suggest that deceptive marketing messages create unrealistic expectations about the health benefits of at-home genetic tests. They call upon the health system to counter unrealistic marketing messages with real advice for consumers.

Note: For an embargoed PDF, please contact Cara Graeff. To interview the lead author, Dr. Cathelijne Van der Wouden, please contact Haley Bridger at or 617-525-6383.

2. Primary care physicians should individualize treatment and encourage self-monitoring for patients with diabetes
Synopsis of ADA recommendations focuses on areas of importance to primary care docs
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An individualized approach to managing diabetes can prevent or delay complications and improve outcomes, according to recommendations detailed in the 2016 American Diabetes Association (ADA) Standards of Medical Care in Diabetes. A synopsis specifically for primary care physicians is published in Annals of Internal Medicine.

The ADA recently published its 2016 Standards to provide clinicians, patients, researchers, payers, and other interested parties with evidence-based recommendations for diabetes care. Diabetes experts summarized the ADA Standards into eight areas of importance to primary care providers: diagnosis, glycemic targets, medical management, hypoglycemia, cardiovascular risk factor management, microvascular disease screening and management, and inpatient diabetes management. In each area, the ADA recommends an individualized approach where self-monitoring is also key component of care.

Note: For an embargoed PDF, please contact Cara Graeff. The lead author, Dr. James Chamberlain, can be reached directly at or through Whitney Peterson at 801-261-9651.

Also in this issue:

Unfettered Access to Reliable Contraception: Pharmacist Prescription Derails a Definitive Solution
Hal C. Lawrence, MD
Ideas and Opinions

Transmission of Hepatitis E virus by Plasma Exchange
Vincent Mallet, MD, PhD; Anais Vallet-Pichard, MD; Stanislas Pol, MD, PhD; Rebecca Sberro-Soussan; Anne-Marie Roque-Alfonso, MD, PhD
Clinical Observation

American College of Physicians

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