Elective Genetic Testing: Genetics Professionals’ Perspectives and Practices

2.3.2023

Elective genetic testing (EGT) to identify disease risk in individuals who may or may not meet clinical criteria for testing is increasingly being offered in clinical practice. However, little is known about how EGT is currently implemented and how genetics professionals perceive this type of testing. We conducted a mixed-methods survey study to evaluate genetics professionals' perspectives and attitudes about EGT and describe the current landscape of EGT practices in the United States (U.S.) and Canada. Six clinical geneticists and 131 genetic counselors responded to the online survey, among whom 44% reported offering EGT in their practice. Over 84% of survey respondents agreed that EGT may improve health outcomes and understanding of genotype–phenotype correlations, and 85% agreed that potential risks include result misinterpretation and contribution to economic health disparities. Though most respondents felt comfortable providing pretest (77%) and post-test (86%) counseling for EGT, lack of provider resources (such as time and personnel) and prioritization of diagnostic testing were cited most frequently in free-text responses as reasons for not offering EGT. Of those offering EGT, 88% reported positive overall experiences. Qualitative analysis of open-ended questions identified benefits of EGT as expanding access to genetic testing, providing potential health benefits, and providing psychological benefits for patients. Disadvantages included prohibitive costs, limited clinical utility, and strain on resources. Overall, we found that genetics providers perceive both potential benefits and harms of EGT and that those offering this testing had generally positive experiences, although ethical reservations and practical limitations exist.

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Prognostic Imagination: Genetic Counseling Amidst Therapeutic Innovation and Evolving Futures

2.3.2023

Despite the moniker “precision medicine,” genetic diagnoses are often imprecise with respect to prognosis. In a period when prognoses are evolving in lockstep with advances in genetic diagnostics and therapeutics, it is critical that clinicians and researchers consider how prognosis is communicated beyond the moment of diagnosis. Research has shown that genetic diagnoses are described differently in pre- and postnatal contexts, but we know relatively little about how patients and families make sense of prognostic information as affected children grow up. Here, I draw on research and personal narratives to describe how prognostic information impacts individuals' conceptions of the future. A deeper understanding of how patients and families view prognosis is important because parents may need support as prognostic conversations arise and because perceptions of prognosis may influence ideas about the future, psychological health, decisions, and planning. By exploring how specific ideas about an individuals' future take hold, clinicians and researchers may begin to identify the benefits, harms, and accuracy of varied sources of prognostic information, opening new areas of bioethical investigation. In closing, I propose prognostic imagination as a useful concept for considering how patients and families experience prognostic information amidst therapeutic innovations and evolving futures.

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The Experiences of Families Receiving a Diagnosis of 22q11.2 Deletion Syndrome in Ireland

2.3.2023

Families in Ireland often wait over 1 year to see a genetic counselor (GC). This qualitative study aimed to explore the views of families who received a diagnosis of 22q11DS in Ireland regarding the need for timely access to genetic counseling at the point of diagnosis. Twenty participants were recruited through the ‘22q Ireland’ support group, giving a response rate of approximately 10% of the total support group members. Semi-structured interviews were conducted online and by telephone which explored experiences of receiving diagnoses, medical care, genetic counseling, mental health, and coping with the diagnosis. Interviews were transcribed verbatim and analyzed using thematic analysis. The experiences of 20 participants were classified into five main themes: Receiving Diagnosis, Interactions with Healthcare Professionals (HCPs, excluding GCs), Medical Care, Information, and Impact of Condition. Participants reported receiving diagnoses for their children in a sub-optimal manner due to inappropriate settings and insufficient information, support, and pre-test counseling. Parents reported feeling responsible for managing their child's complex and fragmented medical care. Participants reported insufficient empathy and little awareness of 22q11DS among HCPs. Participants perceived genetic counseling to be associated with family planning and reported delayed, if any, access to services. Mental health was a particular worry among participants. Conferences about 22q11DS are the main source of information for parents. Participants reported a range of emotions after diagnosis and described the family impact. The findings suggest both an association between HCPs' poor understanding of 22q11DS and the perceived lack of empathy from HCPs and fragmented medical care. There is an identified need for advocacy of the GC profession in Ireland to support these families. Increased awareness of 22q11DS among HCPs and the development of a coordinated care pathway for 22q11DS, with timely access to genetic counseling, may improve care and lead to better outcomes.

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Genetic Counseling Students' use of Patient-centered Communication Skills Predicts Standardized Patient Satisfaction during Virtual Simulated Sessions

2.3.2023

Communication is essential to effective genetic counseling, but few studies have systematically evaluated methods of assessing communication skills among genetic counseling trainees. The study's objective is to compare the strength of associations between standardized patient (SP) satisfaction with simulated genetic counseling sessions and student skill use during the sessions, as reported by SPs and students. We hypothesized that (1) Both SP- and student-reported skill use will be significantly associated with SP satisfaction ratings during the baseline simulation and (2): SP ratings of student skill use will show a stronger relationship to SP satisfaction than student self-rating of skill use. Sixty genetic counseling students and recent graduates (referred to as “students”) from accredited U.S. and Canadian programs participated in the study and completed a baseline virtual-simulated genetic counseling session. Both students and SPs completed post-session questionnaires about communication skill use (a 22-item checklist) and SPs completed a satisfaction questionnaire based on the session (a 14-item Likert scale). Multilevel regression models assessed associations between SP satisfaction during the baseline session and SP- or student-reported skill use. SP satisfaction was significantly associated with skill use reported by both SPs and students, but the model based on SP report explained a higher proportion of the variance in SP satisfaction than student-reported skill use (SP model fixed effects R² = 27%, adjusted R² = 21%; vs. student model R² = 7%, adjusted R² = −2%). For both the SP and student models, use of more skills from the LISTEN domain (which focused on eliciting the patient's perspective) was associated with higher SP satisfaction, while other skill category domains were not. These findings support the SP satisfaction measure as sensitive to variation in student performance of key communication skills, especially those eliciting the patient's perspective. Moreover, SP assessment of session satisfaction can be a useful assessment of student communication performance and a meaningful proxy for actual patient satisfaction.

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Prenatal Genetic Counseling in States Hostile to Abortion in the Final Days of Roe v. Wade: A Qualitative Study

2.3.2023

Genetic counselors (GCs) play an important role in providing and coordinating care for patients considering abortion care secondary to fetal anomaly and/or genetic diagnosis. In the United States, restrictive legislation reducing access to abortion has increased dramatically in recent years. In Texas, an unusual vigilante-style law went into effect in September 2021, effectively banning all abortion after 6-week gestation; this more restrictive legislation was widely seen as a harbinger of things to come. To assess the impact of evolving abortion restrictions on genetic counseling practice and patient care, we conducted semistructured interviews with 34 GCs practicing in states characterized as hostile to abortion using standards developed by the Guttmacher Institute and analyzed using Dedoose software. All interviews took place prior to the June 2022 Supreme Court decision overturning Roe v. Wade. Our qualitative study offered some support for earlier work, suggesting that time pressure created by gestational age limits and the potential need for patients to travel out of state for abortion care was the most significant impact on GC practice. However, GCs practicing in Texas and other highly restrictive states were more likely to report that legal uncertainty had a greater impact, often affecting their ability to counsel patients. GCs in Texas also emphasized that institutional guidance was helpful and that a lack of institutional guidance hindered patient care. With the Supreme Court decision in June 2022 overturning the right to abortion established under Roe v. Wade, many more GCs are likely to practice in states where abortion is restricted or banned. Our study suggests that impediments to counseling may be underappreciated in the changing landscape of abortion law.

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Patient-reported Outcomes Associated with Reflex BRCA1/2 Tumor and Subsequent Germline Panel Genetic Testing for High-Grade Serous Ovarian Cancer

2.3.2023

Reflex genetic testing of tumor tissue is being completed to direct cancer treatment; however, the patient impact of this genetic testing model is unknown. This survey study evaluates psychological outcomes following tumor and germline genetic testing in individuals with a new diagnosis of high-grade serous ovarian cancer (HGSOC). Individuals were recruited from two hospitals in Toronto, Canada. Participants completed surveys 1 week after receiving tumor results and 1 week after receiving germline results (which included genetic counseling). Outcomes included cancer-related distress (Impact of Events Scale: IES), genetic testing-related distress (Multidimensional Impact of Cancer Risk Assessment: MICRA), and patient satisfaction. Paired t-tests were used to evaluate differences in outcomes following each genetic test result; Cohen's d was used to evaluate effect size. Subgroup analyses were undertaken according to age at diagnosis (<60 years vs. ≥60 years) and test results (any positive vs. both negative). McNemar's test assessed differences in satisfaction. Fifty-two individuals were included in the analyses. Mean IES scores were similar following disclosure of tumor and germline results (27.39 vs. 26.14; p = 0.481; d = 0.101). Compared to following tumor result disclosure, MICRA scores were significantly lower following receipt of germline results with genetic counseling (27.23 vs. 22.69; p = 0.007; d = 0.435). Decreases in MICRA scores from tumor to germline result disclosure were greater for those diagnosed <60 years or those who received only negative test results. Most individuals were satisfied/highly satisfied following tumor (85.7%) and germline (89.8%) results disclosure (p = 0.774). Reflex tumor, and subsequent germline, genetic testing is a new model of care for cancer patients. In our cohort, genetic testing-related distress decreased significantly following receipt of germline results with genetic counseling, especially for individuals diagnosed under 60 years and those receiving only negative results. Most individuals were satisfied with this model of care.

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Patient Uptake of Updated Genetic Testing Following Uninformative BRCA1 and BRCA2 Results

2.3.2023

Advances have dated the genetic testing initially offered to evaluate for hereditary breast and ovarian cancer risks. Previous research has demonstrated that many patients have not updated testing. This study reviewed the incidence of additional analysis after an uninformative BRCA1/2 result and offered updated testing with limited barriers to those who had not completed. After viewing an educational video and providing informed consent, eligible patients were mailed a saliva collection kit to complete an 84-gene hereditary cancer panel at no personal cost. A total of 704 patients had completed BRCA1/2 only testing between 2001 and 2020. Fifteen percent (N = 102) of the 671 patients with an uninformative BRCA1/2 result had already completed expanded testing. Most, 74 of 102 (73%), had been rereferred to medical genetics during a clinical visit related to cancer care. Those who had already completed additional testing were more likely to have a personal history of cancer (92% vs. 79%, p = 0.002) and live locally (p = 0.032). Invitation to complete updated testing through this study was sent to 372 people, and 116 (31%) consented to participate. For 142 of the 256 who did not proceed with testing through the study, proof of receipt of research information was available. In total, 22 pathogenic variants were reported in 21 of the 226 patients with updated testing from before and including our study: ATM (4), CHEK2 (4), LZTR1 (1), MUTYH (3), NBN (1), NF1 (1), NTHL1 (1), PALB2 (4), PMS2 (1), RAD50 (1), and SPINK1 (1). Many potential barriers of retesting were eliminated by removing personal costs or travel requirements. Still, only about 30% of patients agreed to participate, and a significant portion elected not to proceed. Future research could focus on the discovery of other factors that dissuade patients and what measures may better inform them on potential benefits.

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Healthcare Decision Makers' Perspectives on the Creation of New genetic Counselor Positions in North America: Exploring the Case for Psychiatric Genetic Counseling

2.3.2023

Mental illnesses are common and highly heritable. Patients and their families want and benefit from receiving psychiatric genetic counseling (pGC). Though the pGC workforce is among the smallest of genetic counseling (GC) specialties, genetic counselors (GCs) want to practice in this area. A major barrier to the expansion of the pGC workforce is limited availability of advertised positions, but it remains unclear why this is the case. We used a qualitative approach to explore drivers for and barriers to the creation of GC positions (including pGC) at large centralized genetic centers in the United States and Canada that offer multiple specialty GC services. Individuals with responsibilities for making decisions about creating new clinical GC positions were interviewed using a semi-structured guide, and an interpretive description approach was used for inductive data analysis. From interviews with 12 participants, we developed a theoretical model describing how the process of creating new GC positions required institutional prioritization of funding, which was primarily allocated according to physician referral patterns, which in turn were largely driven by availability of genetic testing and clinical practice guidelines. Generating revenue for the institution, improving physician efficiency, and reinforcing institutional mission were all regarded as valued outcomes that bolstered prioritization of funding for new GC positions. Evidence of patient benefit arising from new GC positions (e.g., pGC) seemed to play a lesser role. These findings highlight the tension between how institutions value GC (generating revenue, reacting to genetic testing), and how the GC profession sees its value (providing patient benefit, focus on counseling).

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Psychiatric Genetic Counseling: A Survey of Australian Genetic Counselors' Practice and Attitudes

2.3.2023

Genetic counseling plays a critical role in supporting individuals and their families' adaption to psychiatric conditions, addressing the multifactorial nature of these conditions in a personally meaningful and empowering way. Yet data related to the practice and attitudes of Australian genetic counselors about psychiatric genetic counseling (PGC) is limited. This survey investigated the practice of Australian genetic counselors, and their attitudes toward PGC. Genetic counselors (N = 393) were invited to participate in an anonymous online survey between March and May 2022. Forty-four genetic counselors (response rate = 11%) from Australia and New Zealand responded. No respondents practice in psychiatric genetics as their speciality area; most respondents do not see any patients where the primary indication is a personal and/or family history of psychiatric disorders (91%). Greater than half of respondents (56%) believed there was sufficient evidence to support PGC, and 64% enquire about personal and/or family history of psychiatric disorders, but only 25% provide genetic counseling on this topic. Most respondents do not feel confident providing risk assessments for psychiatric disorders (72%), while the majority expressed interest in attending specialist training (95%), and in incorporating PGC into future practice (77%). Australian genetic counselors would benefit from psychiatric genetic education and training, and establishment of specialized PGC services would address this gap in patient care, while providing opportunities for genetic counselors to gain skills and experience in PGC.

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Clinical geneticists' views on and experiences with unsolicited findings in next-generation sequencing: “A great technology creating new dilemmas”

12.15.2022

Unsolicited findings (UFs) from diagnostic genetic testing are a subject of debate. The emerging consensus is that some UFs from genetic testing should be disclosed, but recommendations on UF disclosure generally leave room for variation in practice. This study aimed to explore clinical geneticists' views on and experiences with UFs during pretest counseling and UF disclosure. We interviewed 20 certified clinical genetics medical specialists and clinical genetics residents, working in 7 Dutch genetic centers. Participants indicated that discussing the probability of detecting UFs is an integral part of pretest counseling and informed consent. However, they expressed doubts about the degree to which this discussion should occur and about what information they should share with patients. They argued that the contents of their counseling should depend on the individual patient's capacity to understand information. These results endorse the importance of tailored pretest counseling alongside informed consent for optimal genetic consultations. While “medical actionability” is broadly accepted as an important criterion for the disclosure of UFs, participants experienced substantial uncertainty regarding this concept. This study underscores the need for further demarcation of what exactly constitutes medical actionability. Installation of an expert panel to help healthcare professionals decide what variants to disclose will support them when facing the dilemmas presented by UFs.

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