Patient reactions to receiving negative genomic screening results by mail

Stuttgen, Kelsey; Pacyna, Joel E.; Beck, Annika T.; Kullo, Iftikhar J.

doi:10.1038/s41436-020-0906-2

Cited by 8 publications

(12 citation statements)

References 26 publications

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“…Although a small proportion of participants utilized genetic counseling services, eight studies reported receiving many questions from participants about their results when participants were invited to join interview or survey studies related to receiving negative results. One study collected data on the percentage of participants who reported they had questions about their results and these data are reported in Stuttgen, Pacyna, Beck, Kullo, & Sharp, 2020.…”

Section: Resultsmentioning

confidence: 99%

“…The first category was terminology that described the result as the absence of a positive or significant result. This terminology has challenges, including complexity with explaining the absence of something (Stuttgen, Pacyna, Beck, et al, 2020). The second category used the terminology “negative results.” Studies reported the results were negative and explained what that means.…”

Section: Discussionmentioning

confidence: 99%

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Returning negative results from large‐scale genomic screening: Experiences from the eMERGE III network

Finn

Lynch

Aufox

et al. 2020

American J of Med Genetics Pt A

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Population‐based genomic screening has the potential to improve health outcomes by identifying genetic causes of disease before they occur. While much attention has been paid to supporting the needs of the small percentage of patients who will receive a life‐altering positive genomic screening result that requires medical attention, little attention has been given to the communication of negative screening results. As there are currently no best practices for returning negative genomic screening results, we drew on experiences across the electronic medical records and genomics (eMERGE) III Network to highlight the diversity of reporting methods employed, challenges encountered in reporting negative test results, and “lessons learned” across institutions. A 60‐item survey that consisted of both multiple choice and open‐ended questions was created to gather data across institutions. Even though institutions independently developed procedures for reporting negative results, and had very different study populations, we identified several similarities of approach, including but not limited to: returning results by mail, placing results in the electronic health record via an automated process, reporting results to participants' primary care provider, and providing genetic counseling to interested patients at no cost. Differences in procedures for reporting negative results included: differences in terminology used to describe negative results, definitions of negative results, guidance regarding the meaning of negative results for participants and their family members, and recommendations for clinical follow up. Our findings highlight emerging practices for reporting negative genomic screening results and highlight the need to create patient education and clinical support tools for reporting negative screening results.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Returning negative results from large‐scale genomic screening: Experiences from the eMERGE III network

Finn

Lynch

Aufox

et al. 2020

American J of Med Genetics Pt A

Self Cite

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“…This finding suggests that future research ought to assess different modes of returning carrier and negative genomic screening results to participants to assess their understanding and recall of results. Although not specifically addressing recall, interviews with and surveys of adult participants receiving negative genomics screening results by postal mail or online also found that while participants valued learning their genomic screening results, some reported lack of understanding or misunderstanding of their results (Butterfield et al., 2019; Cheema et al., 2021; Hoell et al., 2020; Stuttgen et al., 2020).…”

Section: Discussionmentioning

confidence: 99%

Experiences of adolescents and their parents after receiving adolescents’ genomic screening results

Lillie

Prows

McGowan

et al. 2021

Journal of Genetic Counseling

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There has been considerable debate over whether adolescents should have the opportunity to learn genetic information about adult-onset disease risk and carrier status without a clinical indication. Adolescents face increasing opportunities to learn more about such genetic risks through the return of secondary findings from clinical genomic testing, direct-to-consumer genetic testing, and research opportunities.However, little is known about the perspectives of adolescents who have received genomic screening results. We conducted separate qualitative interviews with 15 adolescents and their parents who enrolled in a research protocol where they decided which genomic screening results to receive for the adolescent for up to 32 conditions informed by 84 genes. The goal of these interviews was to explore the impact of adolescents learning genomic results without a clinical indication for screening. Of the participating dyads, four received positive results for a pathogenic/likely pathogenic (P/LP) variant for an autosomal dominant (AD) condition, five received carrier results for a heterozygous P/LP variant for an autosomal recessive (AR) condition, and six received negative results. An interpretive descriptive qualitative approach was used. Interview transcripts were coded using a guide developed by the study team based on themes that emerged from the interviews. Degree of recall and description of results, actionability, and emotional responses differed according to the types of results received. However, all participants were satisfied with their decision to learn results, and most did not report any lasting psychological harms. Participants adapted to genomic information about themselves, even after learning about unexpected increased risk for future health problems. Our findings support the position that, whenever possible, perspectives and wishes of adolescents should be strongly considered and respected in the decision-making process regarding genetic testing.

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“…These experiences are reminiscent of Levin et al’s findings that genetic counseling uptake increases when counselors are proactive and reach out to patients or research participants directly [ 11 ]. Similarly, in a follow-up survey following the return of neutral results, we found that approximately one third of the 1442 study participants who completed the survey had unanswered questions about their results [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

“They’re Not Going to Do Nothing for Me”: Research Participants’ Attitudes towards Elective Genetic Counseling

Sutton

Beck

Gamm

et al. 2020

JPM

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As applications of genomic sequencing have expanded, offering genetic counseling support to all patients is arguably no longer practical. Additionally, whether individuals desire and value genetic counseling services for genomic screening is unclear. We offered elective genetic counseling to 5110 individuals prior to undergoing sequencing and 2310 participants who received neutral results to assess demand. A total of 0.2% of the study participants accessed genetic counseling services prior to sequencing, and 0.3% reached out after receiving neutral results. We later conducted 50 interviews with participants to understand why they did not access these services. Many interviewees did not recall the availability of genetic counseling and were unfamiliar with the profession. Interviewees described not needing counseling before sequencing because they understood the study and felt that they could cope with any result. Counseling was considered equally unnecessary after learning neutral results. Although the participants had questions about their results, they did not feel that speaking with a genetic counselor would be helpful. Genomic screening efforts that employ opt-in models of genetic counseling may need to clarify the potential value of genetic counseling support from the outset and feature genetic counseling services more prominently in program materials.

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Patient reactions to receiving negative genomic screening results by mail

Cited by 8 publications

References 26 publications

Returning negative results from large‐scale genomic screening: Experiences from the eMERGE III network

Returning negative results from large‐scale genomic screening: Experiences from the eMERGE III network

Experiences of adolescents and their parents after receiving adolescents’ genomic screening results

“They’re Not Going to Do Nothing for Me”: Research Participants’ Attitudes towards Elective Genetic Counseling

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