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Should You Recommend Direct-to-Consumer Genetic Testing for This Patient?: Grand Rounds Discussion From Beth Israel Deaconess Medical Center: Annals of Internal Medicine: Vol 173, No 7

In recent years, the number of patients choosing to have direct-to-consumer (DTC) genetic testing without involving their clinicians has increased substantially. For example, the number of subscribers to a commonly used testing site has grown to more than 10 million. These services have been heavily marketed in the United States and often include information about ancestry; genetic traits; and, increasingly, disease risk. In clinical care, genetic testing by a physician is accompanied by both pre- and posttest counseling by a trained genetic counselor. However, there are not enough genetic counselors to meet the needs of all persons contemplating DTC genetic testing. Formal genetic counseling includes preparation of a family pedigree; a discussion about potential benefits, the possibility that some information might be stressful to receive or difficult to understand, and the potential for disclosure of genetic information; and a detailed informed consent process. Some DTC tests for genetic susceptibilities look for only a few known mutations in a particular gene (such as BRCA1); a negative test result does not exclude the possibility of a clinically important mutation. A positive DTC genetic test result that might change clinical management should be followed by a confirmatory test through a genetics laboratory. Here, 2 expert physicians—a general internist and a medical oncologist with genetics experience—discuss an approach to counseling a patient who is considering DTC testing to learn more about his ancestry and his risk for metabolic syndrome.

Risk for Non–AIDS-Defining and AIDS-Defining Cancer of Early Versus Delayed Initiation of Antiretroviral Therapy: A Multinational Prospective Cohort Study: Annals of Internal Medicine: Vol 174, No 6

Background: Immediate initiation of antiretroviral therapy (ART) regardless of CD4 cell count reduces risk for AIDS and non–AIDS-related events in asymptomatic, HIV-positive persons and is the standard of care. However, most HIV-positive persons initiate ART when their CD4 count decreases below 500 × 109 cells/L. Consequences of delayed ART on risk for non–AIDS-defining and AIDS-defining cancer, one of the most common reasons for death in HIV, are unclear. Objective: To estimate the long-term risk difference for cancer with the immediate ART strategy. Design: Multinational prospective cohort study. Setting: The D:A:D (Data collection on Adverse events of anti-HIV Drugs) study, which included HIV-positive persons from Europe, Australia, and the United States. Participants: 8318 HIV-positive persons with at least 1 measurement each of CD4 cell count and viral load while ART-naive (study period, 2006 to 2016). Measurements: The parametric g-formula was used, with adjustment for baseline and time-dependent confounders (CD4 cell count and viral load), to assess the 10-year risk for non–AIDS-defining and AIDS-defining cancer of immediate versus deferred (at CD4 counts <350 and <500 × 109 cells/L) ART initiation strategies. Results: During 64 021 person-years of follow-up, 231 cases of non–AIDS-defining cancer and 272 of AIDS-defining cancer occurred among HIV-positive persons with a median age of 36 years (interquartile range, 29 to 43 years). With immediate ART, the 10-year risk for non–AIDS-defining cancer was 2.97% (95% CI, 2.37% to 3.50%) and that for AIDS-defining cancer was 2.50% (CI, 2.37% to 3.38%). Compared with immediate ART initiation, the 10-year absolute risk differences when deferring ART to CD4 counts less than 500 × 109 cells/L and less than 350 × 109 cells/L were 0.12 percentage point (CI, −0.01 to 0.26 percentage point) and 0.29 percentage point (CI, −0.03 to 0.73 percentage point), respectively, for non–AIDS-defining cancer and 0.32 percentage point (CI, 0.21 to 0.44 percentage point) and 1.00 percentage point (CI, 0.67 to 1.44 percentage points), respectively, for AIDS-defining cancer. Limitation: Potential residual confounding due to observational study design. Conclusion: In this young cohort, effects of immediate ART on 10-year risk for cancer were small, and further supportive data are needed for non–AIDS-defining cancer. Primary Funding Source: Highly Active Antiretroviral Therapy Oversight Committee.

Surviving COVID-19 After Hospital Discharge: Symptom, Functional, and Adverse Outcomes of Home Health Recipients

Background: Little is known about recovery from coronavirus disease 2019 (COVID-19) after hospital discharge. Objective: To describe the home health recovery of patients with COVID-19 and risk factors associated with rehospitalization or death. Design: Retrospective observational cohort. Setting: New York City. Participants: 1409 patients with COVID-19 admitted to home health care (HHC) between 1 April and 15 June 2020 after hospitalization. Measurements: Covariates and outcomes were obtained from the mandated OASIS (Outcome and Assessment Information Set). Cox proportional hazards models were used to estimate the hazard ratio (HR) of risk factors associated with rehospitalization or death. Results: After an average of 32 days in HHC, 94% of patients were discharged and most achieved statistically significant improvements in symptoms and function. Activity-of-daily-living dependencies decreased from an average of 6 (95% CI, 5.9 to 6.1) to 1.2 (CI, 1.1 to 1.3). Risk for rehospitalization or death was higher for male patients (HR, 1.45 [CI, 1.04 to 2.03]); White patients (HR, 1.74 [CI, 1.22 to 2.47]); and patients with heart failure (HR, 2.12 [CI, 1.41 to 3.19]), diabetes with complications (HR, 1.71 [CI, 1.17 to 2.52]), 2 or more emergency department visits in the past 6 months (HR, 1.78 [CI, 1.21 to 2.62]), pain daily or all the time (HR, 1.46 [CI, 1.05 to 2.05]), cognitive impairment (HR, 1.49 [CI, 1.04 to 2.13]), or functional dependencies (HR, 1.09 [CI, 1.00 to 1.20]). Eleven patients (1%) died, 137 (10%) were rehospitalized, and 23 (2%) remain on service. Limitations: Care was provided by 1 home health agency. Information on rehospitalization and death after HHC discharge is not available. Conclusion: Symptom burden and functional dependence were common at the time of HHC admission but improved for most patients. Comorbid conditions of heart failure and diabetes, as well as characteristics present at admission, identified patients at greatest risk for an adverse event. Primary Funding Source: No direct funding.