Genetic counseling for consumer‐driven whole exome and whole genome sequencing: A commentary on early experiences

Abstract

Counseling after consumer‐driven whole exome sequencing (WES) and whole genome sequencing (WGS) presents challenges for genetic counselors as availability of this testing increases. There are no standard practice guidelines and limited resources for genetic counselors in this area, but consumer demand for counseling and data interpretation exists and is likely to grow along with testing opportunities. In this paper, we comment upon our experiences as three independent, private practice genetic counselors who have provided counseling services for clients with WES/WGS reports and data. In our counseling experience, we have encountered three main types of client motivation for seeking testing and counseling: generally healthy individuals who are curious to learn more about their genomic data, individuals with family histories of various conditions, and/or who want to better understand specific disease risks, and individuals who are ill, undiagnosed and searching for an understanding of their ailments. Research is needed to better understand client motivations for undergoing testing and counseling, as well outcomes of counseling sessions. In addition to improvements in variant identification, classification and bioinformatics, there is a need for practice guidelines, counseling resources, service delivery models, and efforts to increase awareness and access to genetic counseling services.

Genetic counseling following direct‐to consumer genetic testing: Consumer perspectives

“…Understanding clients’ motivations, what they hope to understand and learn was similarly stressed by Schmidt et al. (2019).…”

“…Although this high proportion likely reflects bias of ascertainment and has not been reported before in DTC studies, this is a population where DTC testing may be of particular interest given their diagnostic challenges. Of relevance, Schmidt, Mass, and Altmeyer (2019) found that one‐third of their clients who sought genetic counseling for consumer‐driven whole exome (WES) and whole genome sequencing (WGS) were “undiagnosed and searching” and several of the symptoms they listed are seen with EDS Type III (e.g., joint pain, chronic fatigue, digestive problems).…”

“…Schmidt et al. (2019) also described clients feeling like physicians had “written them off.” Some of our participants with EDS Type III thought that their DTC GT results might offer an explanation for their difficulties with pain management and wanted test results documented so that healthcare providers would believe them.

P2 (22‐year old female with EDS Type III) But I’ve always had problems with pain medicine because I need a lot more than other people and doctors don't really like to give out more pain medicine, obviously. So, my mom (P6, 56‐year old female with EDS Type III) and I were…well my mom was really excited finding an actual reason for why that was.

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“…Additional genetic counseling recommendations are provided in Sturm and Manickam's (2012) DTC GT case study and in the Schmidt et al. (2019) commentary on genetic counseling for consumer‐driven WES and WGS.…”

Genetic Counseling, Personalized Medicine, and Precision Health

“…However, the participant feedback also suggests a need to consider alternatives to traditional service delivery models and flexibility in the content and length of genetic counseling services, which should be considered strongly by counselors providing services for personalized medicine patients. Schmidt et al (2019) present data from 70 patients seen over the course of 2 years for genetic counseling following exome or genome sequencing. Similar to Sweet et al the counselors followed a Reciprocal Engagement Model for their counseling, allowing the client to set the priorities of the session throughout.…”