While genomic medicine is becoming an important part of patient care with an ever-increasing diagnostic yield, recontacting patients after reclassification of variants of uncertain clinical significance (VUSs) remains a major challenge. Although periodical reinterpretation of VUSs is highly desired, recontacting former patients with new classifications is commonly not fulfilled in practice. We draw on semi-structured interviews with 20 Israeli healthcare professionals and stakeholders involved in communicating the results of genome-wide sequencing to patients. Findings show agreement that an individual health care professional cannot address the task of recontacting patients after re-classification, and that responsibility should be shared among the medical specialties, laboratory scientists, as well as patients. In the absence of established guidelines, many respondents suggested that the patient should be informed about reclassification during a follow-up contact but they disagreed who should be responsible for informing the patient. HCPs agreed that the solution to this challenge involves a centralized automated database that is accessible, continuously updated, and facilitates retrospective as well as prospective flagging of reclassification for patients who can benefit from this information. National and international policies providing concrete guidelines on the optimal way to recontact patients with new valuable genomic information are needed.
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http://dx.doi.org/10.1007/s12687-021-00556-x | DOI Listing |
Neurology
February 2025
Section on Gerontology and Geriatric Medicine, Department of Internal Medicine and the Sticht Center for Healthy Aging and Alzheimer's Prevention, Wake Forest University School of Medicine, Winston-Salem, NC.
Background And Objectives: The Systolic Blood Pressure Intervention Trial suggested that intensive lowering of systolic blood pressure (SBP) decreases the risk of developing dementia. However, an insufficient number of probable dementia cases stemming from the trial's early termination made results inconclusive. The goal of this study was to estimate the effect of intensive vs standard SBP lowering on the longer term incidence of cognitive impairment leveraging extended follow-up for cognitive status.
View Article and Find Full Text PDFThe practice of recontact in genomic medicine has the power to help rectify long-standing inequities in genetic testing. However, if not delivered systematically, recontacting practices also have the potential to reinforce these same inequities. Recontact, which occurs when contact between a clinician and patient is reinitiated after a relationship has ended, is often in search of or in response to updated interpretation or results.
View Article and Find Full Text PDFGenet Med Open
July 2024
Peter O'Donnell Jr. School of Public Health, University of Texas Southwestern Medical Center, Dallas, TX.
Purpose: A primary challenge in clinical genetics is accurate interpretation of identified variants and relaying the information to patients and providers. Inconsistencies around handling variant reclassifications and notifying patients, combined with the lack of prescriptive guidelines on re-evaluation, reanalysis, and return of variants, has created practice challenges. Although relevant empirical work has emerged, the scope and outcomes of this research have not been characterized.
View Article and Find Full Text PDFFuture Sci OA
December 2024
Erasmus School of Philosophy, Erasmus University, Rotterdam, The Netherlands.
Introduction: Particularly in genetics, former results can gain new meaning in the course of time. This raises questions about when professionals should recontact patients with new information. The aim of this focus group study is to clarify how different stakeholders in oncology think about the extent and limits of a duty to recontact.
View Article and Find Full Text PDFAm J Manag Care
November 2024
Department of Health Policy and Management, School of Public Health, Texas A&M University, 212 Adriance Lab Rd, 1266 TAMU, College Station, TX 77843-1266. Email:
Objectives: Provider directory inaccuracies have important implications for care navigation and access as well as ongoing regulatory efforts. We assessed the extent to which identified provider directory inaccuracies persisted across 7 specialties (cardiology, dermatology, endocrinology, gastroenterology, neurology, obstetrics-gynecology, primary care) and 5 carriers in the Pennsylvania Affordable Care Act insurance marketplace.
Study Design: A secret shopper survey recontacted inaccurately listed providers (N = 1802) between 403 and 574 days after they were identified in an earlier secret shopper survey.
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