Illustrative Case Studies in the Return of Exome and Genome Sequencing Results

Self Cite

The impact of returning secondary results from exome sequencing (ES) on patients/participants is important to understand as ES is increasingly utilized in clinical care and research. Participants were recruited from studies using ES and were separated into two arms: 107 who had ES and were offered the choice to learn secondary results (ES group) and 85 who had not yet had ES (No ES group). Questionnaires were administered at baseline and 1 and 12 months, following results disclosure (ES group) or enrollment (No ES group). While the majority (65%) elected to learn all results following pre-test counseling, it was reduced from the 76% who indicated a desire for all results at baseline. Thirty-seven percent received results associated with an increased personal disease risk. There were no differences in changes in any of the psychological and social measures from baseline to post-results disclosure between the ES and No ES groups. Receiving a wide range of secondary findings appeared to have little measurable impact on most participants. The experience of learning secondary results may be related to participants' previous experiences with genetics, as well as the genetic counseling provided. Future research with a more diverse, genetically naïve group, as well as scalable methods of delivery, is needed.

Section: Discussionmentioning

confidence: 88%

Impact of Receiving Secondary Results from Genomic Research: A 12‐Month Longitudinal Study

Wynn

Martinez

Bulafka

et al. 2017

Self Cite

“…While many of these challenges are not unique to WES, the cases presented by Tomlinson and colleagues (2015) illustrate how the breadth of information, the variety and uncertainty of possible results and potential broad implications of the results from WES create new dimensions to these challenges (Tomlinson et al, 2015). Amendola and colleagues (2015) recently published a collection of cases of returning results from WES from CSER studies highlighting some recurring themes including returning multiple complex results, addressing misconceptions of negative results and navigating atypical presentations of well-known conditions (Amendola et al, 2015). These publications provide important insight for genetic counselors as they prepare to counsel for WES and may help counselors avoid some of the anxiety and uncertainty that I faced when I began counseling for WES.…”

Section: Practice Implicationsmentioning

confidence: 99%

Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing

Wynn

2015

Self Cite

Whole exome sequencing (WES) is increasingly used in research and clinical genetics as the cost of sequencing decreases and the interpretation improves. Genetic counselors need to be prepared to counsel a diverse patient population for this complex test. This commentary is a reflection of one genetic counselor’s experiences in counseling, consenting, and returning results for clinical and research WES for over 120 participants and patients. She reflects on how she overcame the initial challenges and concerns of counseling for WES and how her counseling evolved hfrom a teaching based counseling model to an interactive patient-center counseling model. Her insights are offered to prepare other genetic counselors for the growing use of genomic testing.

“…Managing patients’ expectations has been described as a greater challenge in the context of WES as compared to other genetic tests due to the test's complexity and breadth of possible results (Amendola et al, ). We have found this to also be a challenge and one that is even more difficult in our international patient population due to a few different factors.…”

Section: Counseling Challengesmentioning

confidence: 99%

“…These factors decrease the amount of time we could spend exploring patients’ goals for WES and assessing their overall understanding. Such techniques have been suggested as means of setting realistic expectations, which is vital since it may impact how patients understand and act on WES results (Amendola et al, ). However, this has proved to be more difficult for our international patients given the amount of information we cover during pre‐test counseling, lack of the WES video, and use of an interpreter.…”

Section: Counseling Challengesmentioning

confidence: 99%

Perspectives on facilitating whole exome sequencing for international patients at Mayo Clinic

Bertsch

Agre

Ewing

et al. 2019

Whole exome sequencing (WES) has become a fundamental component of genetic evaluation and diagnosing rare genetic diseases. This test is now offered to patients from a wide variety of cultural backgrounds and in various clinical and research settings. This commentary is a reflection of one group of clinical genetic counselors’ experiences in facilitating WES for patients who come from outside the United States for genetic evaluation and pursue WES. This patient population in our clinic primarily consists of individuals from the Middle East and presents recurrent logistical and counseling challenges. We aim to describe our international patient population, illuminate the challenges we have faced and illustrate how we have addressed these challenges.