Journal of Genetic Counseling最新文献

This study explores lay public perspectives on intrafamilial genetic risk communication, focusing on individuals who hypothetically choose not to receive genetic information, a largely overlooked population in genetic counseling research. A nested cross-sectional online survey combining both closed- and open-ended questions was used. Quantitative data included sociodemographic characteristics, family functioning as measured with the SCORE-15, genetic literacy (score range 0–4), and preferences regarding whether participants would want to be informed of a genetic risk in their family across three hypothetical scenarios (Cystic Fibrosis, Hereditary Breast and Ovarian Cancer and early-onset Alzheimer's disease). These data were analyzed using descriptive and inferential statistics. Qualitative data, consisting of open-ended responses on the reasons for not wanting to be informed, were analyzed inductively through reflexive thematic analysis. Of the 609 lay participants, 44 (7.2%) expressed a hypothetical preference not to be informed of a genetic risk in their family. Qualitative analysis of their responses revealed four main themes: (1) worry about anxiety and emotional distress in oneself and loved ones; (2) protection against psychological harm; (3) probability, uncertainty, and skepticism about preventive medicine; and (4) worry about stigma. These findings highlight the emotional, ethical, and social complexity behind the decision to decline genetic risk information and underscore the need for strategies to encourage and facilitate intrafamilial genetic risk communication that goes beyond education alone.

Polygenic risk scores (PRS), a measure that sums multiple common genetic susceptibility variants into a single burden measure, can help identify individuals at higher risk for colorectal cancer (CRC). Consequently, there is growing interest in its potential use to guide screening practices, despite the current lack of evidence-based guidelines on the clinical utility of PRS models. Therefore, there is a need to understand the potential challenges and factors associated with PRS use in primary care settings. This qualitative study explores the perceptions of healthcare providers with PRS information to guide CRC screening decisions in the primary care setting. Using an exploratory approach, we conducted semi-structured interviews with 10 healthcare providers. The socioecological model guided the development of the interview questions. Transcripts were coded based on emergent themes. A total of seven themes were identified in this study, and each was organized using the socioecological model at the individual, interpersonal, community, and organizational levels. One key finding was the limited knowledge of PRS and the distinction between PRS and genetic testing for high-penetrant germline mutations. Providers shared the need for training, education, and comprehensive clinical guidelines for the use of PRS. This study provides insights to better optimize genetic education, testing, access, and care for improved CRC screening in at-risk individuals.

Hereditary cancer syndromes are underdiagnosed due to limitations in guideline-based referral systems that rely on personal/family history and provider recognition. We evaluated the interest in, uptake of, and outcomes of genetic services by adults in an ambulatory endoscopy center to determine if population-based genetic screening could aid in hereditary cancer syndrome identification. Between February and September 2024, a hereditary cancer screening questionnaire was developed and distributed to 1010 adults at a community endoscopy clinic. The tool was based on National Comprehensive Cancer Network (NCCN) criteria and was designed to flag individuals with personal/family history suggestive of inherited cancer risk. We offered all participants a referral to genetic counseling regardless of risk. A total of 135 individuals (13.4%) expressed interest in a genetic counseling referral, with significantly higher interest among those who screened as high-risk and those who were younger: 105 (19.8%) of high-risk participants compared to 30 (6.2%) of low-risk participants (p < 0.001), and individuals under 45 years compared to those 45 and older (p < 0.002). Only 25 participants completed genetic counseling, and 11 proceeded with testing. Two individuals (18.1% of those tested) were found to have a pathogenic or likely pathogenic variant in hereditary cancer syndrome genes: ATM and NTHL1. Both met NCCN criteria but had not been previously referred for genetic counseling. Our self-administered screening tool successfully identified individuals at risk for hereditary cancer syndromes, including those who would have otherwise been missed. However, the feasibility, efficacy, and overall clinical value of population-based genetic screening in an average-risk population remain debatable given our labor-intensive process and low diagnostic yield observed in our study. Despite these challenges, our findings highlight three promising avenues to improve the identification of individuals with hereditary cancer syndromes and increase uptake of genetic services: continuing to prioritize high-risk individuals using traditional referral models, with an emphasis on improving provider education and recognition of at-risk individuals; leveraging technology to streamline risk assessment and referrals; and targeting younger populations who may be more interested and benefit from earlier intervention.

Genetic testing for inherited retinal diseases (IRDs) has become more accessible in Australia in recent years; however, it is not clear how different factors influence the experiences of genetic counseling and support needs. This study used a phenomenological approach to explore the experiences of adults (over 18 years) who had genetic testing in Australia for an IRD, and factors that impacted their perceptions and support needs. Semi-structured interviews were undertaken, transcribed, and de-identified from 14 interviews with adults living with an IRD, representing a diverse range of experiences. Reflexive thematic analysis was used to iteratively code the transcripts and construct key themes. The four key themes impacting the experience of genetic testing were: (1) Expectations of genetic testing outcomes and expectations. The possibility of emerging treatments often influenced the expectations that people with IRDs had of genetic testing. (2) Personal attitudes toward an IRD diagnosis and how this interacted with individual identity, with higher support needs reported by individuals who accessed genetic testing shortly after their clinical diagnosis compared to those who had lived with an IRD diagnosis for a longer time. (3) Family context as a source of lived experience and emotional support. (4) Logistics of the genetic testing process, with inconsistent pathways of communication between healthcare providers impacting access and follow-up support. Individuals with IRDs who underwent genetic testing placed a high value on having this information. However, additional genetic counseling support is needed for individuals undergoing genetic testing soon after receiving a clinical diagnosis, those with complex family/cultural dynamics, and those receiving inconclusive results. Setting appropriate expectations around outcomes and addressing logistical factors are important for guiding the overall genetic testing experience.

Approximately 20% of individuals diagnosed with ovarian cancer (OC) have an inherited pathogenic or likely pathogenic variant (P/LP) in a cancer risk gene. Though genetic testing for hereditary cancer risk is currently recommended at OC diagnosis, individuals who have not received risk information and their at-risk relatives (ARR) can benefit from genetic testing at any point. In a single-arm implementation study, the Genetic Risk Assessment in Ovarian CancEr (GRACE) study offered traceback genetic testing using a panel of cancer risk genes to (1) living survivors with a prior OC diagnosis who had not received genetic testing at diagnosis and (2) first-degree relatives of deceased eligible probands with a prior OC diagnosis who had not received genetic testing. For survivors and first-degree relatives with a positive result (i.e., P/LP detected), we offered cascade testing to ARR, including providing support resources to facilitate communication with their relatives and offering to directly contact relatives. Traceback testing occurred on average 10–12 years from the incident OC diagnosis, resulting in 20 positive findings with 93 ARR eligible for cascade testing. Overall, cascade testing uptake was 38%, with similar rates among relatives of living (40%) and deceased (33%) probands. Cascade testing identified 11 individuals with OC-risk variants and 3 incidental findings in genes not associated with OC risk. Women were more likely to complete cascade testing than men (45% vs. 30%, respectively). Initially, only two probands consented to direct contact with ARR by the study genetic counselor; 6 additional probands requested direct contact with relatives over subsequent interactions. These findings represent some of the first U.S. data available on cascade testing outcomes of traceback programs and suggest feasibility and effectiveness in U.S. health system settings.

Duchenne muscular dystrophy (DMD) is an X-linked genetic condition characterized by progressive muscle degeneration. Recently, several genotype-specific treatment options for DMD have become available. Prenatal genetic counselors may encounter at-risk patients for DMD, through a variety of indications. However, little is known about how prenatal genetic counselors approach conversations about these emerging treatment options. This study aims to explore prenatal genetic counselors' attitudes, beliefs, and practices in discussing postnatal DMD treatment options with their patients. Board-certified genetic counselors providing preconception or prenatal care in the United States were eligible to participate. Individuals were recruited via convenience sampling through two professional genetic counseling organization listservs. Purposive sampling was used to select 12 individuals with diverse experiences and perspectives, who participated in one-on-one, semistructured Zoom interviews. Topics included the practices of prenatal genetic counselors related to DMD using clinical vignettes; DMD treatment knowledge; and attitudes and beliefs about DMD treatments. Data were transcribed, coded, and analyzed using reflexive thematic analysis. Three themes, one with two subthemes, were produced: (1) discussing DMD treatments in the prenatal setting is highly tailored; (2) discussing DMD treatments with prenatal patients is critical to informed decision making, with subthemes (2a) information about DMD treatments should be balanced and accurate, and (2b) multidisciplinary teams, including prenatal genetic counselors, should support patients in navigating DMD treatment discussions; and (3) prenatal genetic counselors need concise and updated resources relating to DMD treatments. These findings indicate that prenatal genetic counselors play an important role in patients' health care teams when considering DMD treatments. They also emphasize the importance of prenatal genetic counselors staying updated with advancements in treatments and communicating information to patients accurately and in a balanced manner. Given the nuanced nature of these discussions, practice guidelines may be needed.

Pharmacogenomic testing, or genetic testing to inform medication selection and dosing, is now available to patients through various practice models including dedicated pharmacogenomics clinics that may include a genetic counselor as part of the team. Although collecting a family medication history may be part of a pharmacogenomics clinic workflow, collecting a comprehensive family history to uncover disease-related genetic risks is generally not. The purpose of this study was to summarize the number and type of specialty referrals made by a genetic counselor embedded in a pharmacogenomics clinic as a result of collecting a comprehensive family history and conducting a risk assessment. Of the 322 new patient appointments in the Brigham and Women's Hospital Pharmacogenomics Clinic between March 1, 2019 and March 7, 2025, a comprehensive (three-generation) pedigree was collected for 279 patients. A total of 91 unique specialty referrals (82 genetics-related referrals, 9 nongenetics-related referrals) were offered to 85 of the 279 patients with a comprehensive pedigree collected (30%). The majority of referrals made were for cancer genetics (69%; n = 63), and of these patients, 83% (n = 52) were referred based only on family history information, with no personal history that would have prompted a referral to cancer genetics. The high volume of specialty referrals made within a pharmacogenomics clinic based on family history highlights the value of having a genetic counselor collect a comprehensive pedigree as standard practice in any genetics-based encounter.

Retesting individuals who previously had uninformative BRCA1/2 genetic testing can identify new clinically actionable information. However, this practice is limited due to concerns regarding how to retest and recontact ethically with limited resources. This qualitative study explored the perspectives of genetic health professionals (GHPs), patients and next of kin (NOK) regarding retesting and recontact with new results. Participants were involved in an Australia-wide study, which retested patients under a waiver of consent and recontacted those with a clinically actionable variant. Semi-structured interviews with 14 GHPs and 30 patients/NOK regarding their experiences were analyzed using reflexive thematic analysis. Views of GHPs and recontacted individuals were explored and compared, focusing on practice and process implications. Overall, retesting and recontact with new genetic information were considered unconventional but acceptable. The need to balance desirability with feasibility was recognized, although diverging views were evident between GHPs and patients/NOK regarding the scope of retesting, responsibilities, and processes. Providing opportunities to decline new information and timely appointments for new results were important strategies to cushion the impact of recontact for patients. Recontact with support was valued, but barriers remain, including limited resources and unclear responsibilities. These findings provide valuable patient, NOK, and GHP voices to inform best practice recontact within resource-limited health systems.

As genomic testing becomes more common, it is essential to re-examine practical and ethical arguments for and against eliciting race, ethnicity, and ancestry (REA) information from patients as a default practice in genetic counseling. In this article, we evaluate current and historical reasons for using REA information in clinical genetics encounters. We argue that in many, if not most, cases, the value of this practice for patient risk assessment and the establishment of test eligibility is questionable. This does not mean we do not see any value in the practice of discussing REA at all. Rather, we propose that discussions about REA should be patient-led and relevant to discussions about their experiences, values, and goals. To facilitate this change, we offer some practical reasons for limiting the default practice of collecting REA information in genetic counseling. Additionally, we evaluate the ethical acceptability of this practice, anchoring our ethical analysis in three considerations: (1) the impact of the use of REA information in determining eligibility for genetic testing and assessing genetic risk; (2) the influence of inequitable genomic database representation; and (3) the effect of discussing REA on the therapeutic relationship. Our analysis of these considerations leads us to argue for a patient-centered, narrative framework that treats the collection of REA information as a way of encouraging patients to articulate the relevance of these identities to their counseling goals, if and in which context they choose.

This observational study aimed to capture patients' experiences after reviewing carrier screening (CS) and/or noninvasive prenatal cell-free DNA testing (NIPT) results with Natera's Educational Virtual Assistant (NEVA). Patients, partners of patients, or other individuals designated to review the patients' results were included if they consented to follow-up contact. Eligible individuals were sent a text message or e-mail requesting that they complete a survey. The survey collected demographic data and patients' experiences with NEVA across five domains (overall satisfaction, ease of use, overall sentiments, knowledge and perceived understanding, and preferences for results delivery and education) using a combination of multiple-choice, ranking, and Likert-scale questions. Comparisons were made across group proportions for survey responses. Ordinal and logistic regression models were constructed to examine the relationships while adjusting for previous knowledge of test results. Among 1133 survey respondents, 193 had negative CS, 79 had positive CS, 845 had low-risk NIPT, and 16 had high-risk NIPT results. Across all groups, 79.1% reported being satisfied with their experience, 90.5% indicated that NEVA was easy to use, 71.8% reported favorable sentiments regarding their interaction with NEVA, 77.8% correctly reported knowledge of their results, and 86.4% indicated perceived understanding of their results. The most preferred method for reviewing results was using a virtual assistant across the negative CS, positive CS, and low-risk NIPT cohorts; participants with high-risk NIPT preferred talking to a genetic counselor. Participants with low-risk NIPT had greater odds of reporting overall satisfaction (OR: 3.98, p < 0.001) and favorable sentiments (OR: 9.49, p < 0.001) compared to participants with high-risk NIPT. No differences were found among participants who received CS. Survey responses demonstrate the feasibility and utility of NEVA for reproductive genetic testing results delivery and suggest some differences in acceptance for patients receiving NIPT results.