Web Platform vs In-Person Genetic Counselor for Return of Carrier Results From Exome Sequencing

Abstract

IMPORTANCE A critical bottleneck in clinical genomics is the mismatch between large volumes of results and the availability of knowledgeable professionals to return them. OBJECTIVE To test whether a web-based platform is noninferior to a genetic counselor for educating patients about their carrier results from exome sequencing.

Research participants’ experiences with return of genetic research results and preferences for web‐based alternatives

“…Other studies similarly suggest that given cost constraints, workforce shortages and the complexity of genomic information, innovative approaches, like web‐based education and results disclosure, could be an acceptable alternative to the two‐visit genetic counseling model (Biesecker et al, ; Green, Biesecker, McInerney, Mauger, & Fost, ; Green et al, , ; Roberts et al, ; Sweet et al, ). Two studies that used an on‐line educational tool as an adjunct in advance of pretest counseling, reported the intervention was an effective way to learn about the issues, participants valued it for being self‐paced, private and an efficient use of their time (Green et al, ), and was associated with increased knowledge about heredity breast cancer and genetic testing, without increasing anxiety (Green et al, ).…”

“…Two studies that used an on‐line educational tool as an adjunct in advance of pretest counseling, reported the intervention was an effective way to learn about the issues, participants valued it for being self‐paced, private and an efficient use of their time (Green et al, ), and was associated with increased knowledge about heredity breast cancer and genetic testing, without increasing anxiety (Green et al, ). A recent randomized study that compared education and disclosure of carrier results by a web‐platform versus a genetic counselor, reported that the web‐based arm was noninferior for knowledge, distress and decisional regret (Biesecker et al, ). Of note, and as acknowledged by the authors, this was a highly select population who were undergoing relatively low risk testing (e.g., carrier testing with less direct implication for health care).…”

“…Trained genetic counselors are the “gold standard” for educating patients about risks and benefits of genetic testing (Green & Fost, ; Roberts et al, ). However, the traditional two‐visit genetic counseling encounter is increasingly impractical owing to workforce limitations, state licensure barriers and professional costs (Biesecker et al, ; Roberts et al, ). To meet the growing demand for genetic services, alternative models need to be explored (Biesecker et al, ; Jarvik et al, ; Roberts et al, ).…”

“…However, the traditional two‐visit genetic counseling encounter is increasingly impractical owing to workforce limitations, state licensure barriers and professional costs (Biesecker et al, ; Roberts et al, ). To meet the growing demand for genetic services, alternative models need to be explored (Biesecker et al, ; Jarvik et al, ; Roberts et al, ). While others have investigated a variety of alternatives, including CD‐ROM and web‐based options to genetic education and results return with a counsellor (Biesecker et al, ; Jamal et al, ), none have reported outcomes with alternative delivery models in the context of returning individual genetic research results.…”

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

“…Many CSER translational research projects disclosed carrier results as a secondary result. Several projects have published outcomes that include carrier testing (Biesecker et al., ; Cirino et al., ; Lewis et al., ; Parsons et al., ; Vassy et al., ; Wynn et al., ). The Consortium's Actionability/Return of Results Working Group sought to understand the variability in CSER approaches to identifying and disclosing carrier results, including (1) selection of genes and variants; (2) choices given to research participants regarding which results to disclose; (3) results communication approaches; and (4) project outcomes, including the proportion of individuals with carrier results and which genetic variants are commonly identified.…”