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The dawn of consumer‐directed testing
Author(s) -
Ramos Erica,
Weissman Scott M.
Publication year - 2018
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31603
Subject(s) - genetic testing , commit , genetic counseling , medical genetics , health care , medicine , order (exchange) , psychology , genetics , business , computer science , biology , political science , gene , finance , database , law
As the public's interest in genetics and genomics has increased, there has been corresponding and unprecedented growth in direct‐to‐consumer genetic testing (DTC‐GT). Although regulatory concerns have limited true DTC‐GT available without a physician order, the paradigm has shifted to a model of consumer‐directed genetic testing (CD‐GT) in which patients are researching testing options and requesting specific genetic testing from their health‐care providers. However, many nongenetics health‐care providers do not have the background, education, interest, or time to order and/or interpret typical clinical genetic testing, let alone DTC‐GT. The lines between CD‐GT, DTC‐GT, and traditional clinical genetic testing are also blurring with the same types of tests available in different settings (e.g., carrier screening) and tests merging medical and nonmedical results, increasing the complexity for consumer decision‐making and clinician management. The genetics community has the training to work with CD‐GT, but there has been a hesitancy to commit to working with these results and questions about what to do when consumers have more complicated asks, like interpretation of raw data. Additionally, at the rate with which CD‐GT is growing, there are questions about having sufficient genetics professionals to meet the potential genetic counseling demand. While there are many complex questions and challenges, this market represents a chance for the genetics community to address and unmet need. We will review the history of the CD‐GT/DTC‐GT market and outline the issues and opportunities our profession is facing.