Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes

Miller, Ilana; Lewis, Katie; Lawal, Tokunbor A.; Ng, David; Johnston, Jennifer J.; Biesecker, Barbara B.; Biesecker, Leslie G.

doi:10.1038/s41436-018-0083-8

Cited by 7 publications

(9 citation statements)

References 20 publications

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“…While most participants in our study mentioned they would take the result to their doctors, few raised the intention to share the result with their relatives. Similar to what was reported in other studies (Miller et al, 2019;Smit et al, 2016), one participant mentioned that a letter can be an effective tool to review the information at a later time and to share this information with family members. The letter used in our study was not specifically designed to be shared with family members; however, family communication tools and letters have been developed and used in other studies, which could be used in combination with our letter (Kardashian et al, 2012;van der Roest et al, 2009).…”

Section: Discussionsupporting

confidence: 64%

“…However, giving the result directly to patients allows them to manage their health information and share it with providers without access to the specific EHR where the result was deposited (Adler-Milstein et al, 2017;Myrick et al, 2019). Furthermore, with a patient-initiated approach, patients are engaged with their health information, which may serve as a reminder for recommended health behaviors beyond those pertaining to the result at hand (Miller et al, 2019). Future research could expand on prior work to study the effectiveness of a combination of approaches whereby results are deposited in the EHR and provided directly to patients (Williams et al, 2018).…”

Section: Discussionmentioning

confidence: 99%

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Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African‐American cohort

Chan

Lewis

Biesecker

et al. 2021

Journal of Genetic Counseling

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Although genetic counseling is traditionally done through in-person, one-on-one visits, workforce shortages call for efficient result return mechanisms. Studies have shown that telephone and in-person return of cancer genetic results are equivalent for patient outcomes. Few studies have been conducted with other modes, result types or racially diverse participants. This study explored participants' perspectives on receiving pharmacogenomic results by mail. Two experienced moderators facilitated six focus groups with 49 individuals who self-identified primarily as African-American and consented to participate in a genome sequencing cohort study.Participants were given a hypothetical pharmacogenomic result report (positive for c.521T>C in SLCO1B1). An accompanying letter explained that the result was associated with statin intolerance along with a recommendation to share it with one's doctor and immediate relatives. Participants reacted to the idea of receiving this type of result by mail, discussing whether the letter's information was sufficient and what they predicted they would do with the result. Two researchers coded the focus group transcripts and identified themes. Many participants thought that it was appropriate to receive the result through the mail, but some suggested a phone call alerting the recipient to the letter. Others emphasized that although a letter was acceptable for disclosing pharmacogenomic results, it would be insufficient for what they perceived as life-threatening results. Most participants found the content sufficient. Some participants suggested resources about statin intolerance and warning signs be added.Most claimed they would share the result with their doctor, yet few participants offered they would share the result with their relatives. This exploratory study advances the evidence that African-American research participants are receptive to return of certain genetic results by approaches that do not involve direct contact with a genetic counselor and intend to share results with providers.

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Section: Discussionsupporting

confidence: 64%

Section: Discussionmentioning

confidence: 99%

Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African‐American cohort

Chan

Lewis

Biesecker

et al. 2021

Journal of Genetic Counseling

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“…More participants in the MMR study who received an IRR indicating a pathogenic mutation took further steps to discuss screening than those who were negative [ 8 ]. In a study of 68 individuals without cardiomyopathy who had received VUS for a cardiomyopathy gene, 15 went on to engage in health-related behavior change: nine had cardiac testing (for some of whom there were clinical indications) and 12 made lifestyle changes [ 205 ]. The study of healthy individuals who were randomized to receive testing for either AD+CAD or AD alone showed that 57% reported changing at least one health behavior at 12 months in response to genetic risk disclosure [ 210 ].…”

Section: Experiences With Receiving or Returning Resultsmentioning

confidence: 99%

“…Value in having an answer or a name [174,177] Potential for surveillance, early disease detection, access to treatment [9,87,153,177,182,198] Knowledge for children and ability to share information with family [87,153] Reproductive planning [177] Empowerment and greater sense of control [87,174] Benefit to science [177] Behavior change Some behavior change [9,31,100,186,200,205] No or minimal behavior change [8, 79, 87, 183, 198, 206, 207] [194] https://doi.org/10.1371/journal.pone.0258646.t007…”

Section: Perceptions Of Utility Participants Patients Publicsmentioning

confidence: 99%

Return of individual research results from genomic research: A systematic review of stakeholder perspectives

et al. 2021

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Despite the plethora of empirical studies conducted to date, debate continues about whether and to what extent results should be returned to participants of genomic research. We aimed to systematically review the empirical literature exploring stakeholders’ perspectives on return of individual research results (IRR) from genomic research. We examined preferences for receiving or willingness to return IRR, and experiences with either receiving or returning them. The systematic searches were conducted across five major databases in August 2018 and repeated in April 2020, and included studies reporting findings from primary research regardless of method (quantitative, qualitative, mixed). Articles that related to the clinical setting were excluded. Our search identified 221 articles that met our search criteria. This included 118 quantitative, 69 qualitative and 34 mixed methods studies. These articles included a total number of 118,874 stakeholders with research participants (85,270/72%) and members of the general public (40,967/35%) being the largest groups represented. The articles spanned at least 22 different countries with most (144/65%) being from the USA. Most (76%) discussed clinical research projects, rather than biobanks. More than half (58%) gauged views that were hypothetical. We found overwhelming evidence of high interest in return of IRR from potential and actual genomic research participants. There is also a general willingness to provide such results by researchers and health professionals, although they tend to adopt a more cautious stance. While all results are desired to some degree, those that have the potential to change clinical management are generally prioritized by all stakeholders. Professional stakeholders appear more willing to return results that are reliable and clinically relevant than those that are less reliable and lack clinical relevance. The lack of evidence for significant enduring psychological harm and the clear benefits to some research participants suggest that researchers should be returning actionable IRRs to participants.

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“…Therefore, when choosing a genetic testing panel, using the largest available panel will maximize the likelihood of detecting a likely pathogenic or pathogenic variant. This approach also increases the likelihood of variants of uncertain significance, but observational studies do not detect an adverse effect on patients upon learning of VUSs [ 43 , 44 ]. Furthermore, the detection of suspicious VUSs creates an opportunity for resolution of the VUS toward pathogenic or benign if other affected family members are tested.…”

Section: Genes Implicated In Monogenic Dominant Dcmmentioning

confidence: 99%

Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy

Wilsbacher

2020

Curr Cardiol Rep

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Purpose of Review Dilated cardiomyopathy (DCM) frequently involves an underlying genetic etiology, but the clinical approach for genetic diagnosis and application of results in clinical practice can be complex. Recent Findings International sequence databases described the landscape of genetic variability across populations, which informed guidelines for the interpretation of DCM gene variants. New evidence indicates that loss-of-function mutations in filamin C (FLNC) contribute to DCM and portend high risk of ventricular arrhythmia. Summary A clinical framework aids in referring patients for DCM genetic testing and applying results to patient care. Results of genetic testing can change medical management, particularly in a subset of genes that increase risk for life-threatening ventricular arrhythmias, and can influence decisions for defibrillator therapy. Clinical screening and cascade genetic testing of family members should be diligently pursued to identify those at risk of developing DCM.

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Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes

Abstract: Positive VUS results can be returned to apparently unaffected individuals with modest use of healthcare resources, minimal behavioral changes, and favorable psychological reactions.

Cited by 7 publications

References 20 publications

Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African‐American cohort

Preferences for and acceptability of receiving pharmacogenomic results by mail: A focus group study with a primarily African‐American cohort

Return of individual research results from genomic research: A systematic review of stakeholder perspectives

Clinical Implications of the Genetic Architecture of Dilated Cardiomyopathy

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