Journal of Genetic Counseling最新文献

APOE codes for apolipoprotein E (ApoE), which plays an important role in lipid and lipoprotein metabolism and homeostasis of tissue lipid content. Several variants in APOE have been associated with inherited dyslipidemias, and a subsequent increased risk of developing premature coronary artery disease (CAD). However, these variants and their impact on risk can be thought of on a spectrum, with some being more monogenic in nature, and others contributing in a polygenic/multifactorial manner. Despite these known associations, there is often hesitancy around ordering APOE genetic testing due to the association with Alzheimer's disease. This paper aims to catalyze discussion around APOE testing and counseling strategies, highlight the nuances around this topic, and advocate for inclusion of APOE testing on dyslipidemia panels when an inherited dyslipidemia is suspected.

Between 2018 and 2023, one percent of matched applicants to North American genetic counseling graduate programs (GCGPs) have been international applicants (IAs). The COVID-19 pandemic led to changes in the GCGP application processes in 2020, most notably the incorporation of virtual interviews and GRE waivers, which uniquely impacted IAs. Twelve international genetic counseling (GC) students who matriculated into a U.S.-based GCGP in 2021 or 2022 participated in this qualitative study (42% of the total enrolled) to understand their application experience. Cost, location of the program, and rapport during interviews were the most important factors identified by IAs to apply to and rank the GCGPs. Shadowing and volunteer experiences relevant to GC were cited as important for applicants to learn about a genetic counseling career, but many had challenges finding opportunities in their home countries. Unique logistical challenges in taking the GRE, transcript evaluation services, and standardized English proficiency tests were described. Although virtual interviews offered the same experience as domestic applicants, the time difference was a major challenge, requiring IAs to interview through the night, creating additional stressors. Nine of 12 were re-applicants and shared that engaging with GCGPs early in the process was beneficial for improving applications and, at times, requesting waivers for transcript evaluation requirements and considering unique volunteering experiences. Participants suggested GCGPs can address barriers by providing more specific information on their websites as it pertains to IAs, and contact information for the international student office. Improving awareness of the applicants' backgrounds, home country experiences, and time zone differences would provide IAs with a more equitable application experience. Addressing these barriers could help promote diversity, equity, and inclusion allowing for more IAs and the growth of the genetic counseling profession.

The limited literature on Asian family communication of hereditary cancer risk and cascade genetic testing for pathogenic variants (PVs) in BRCA1 and BRCA2 has reported that Asian patients have selective communication of test results and lower cascade testing rates. To better understand the factors that impact communication and cascade testing in Asian families, we conducted an in-depth qualitative study guided by the Health Belief Model. Participants with heterozygous PVs in ATM, BRCA1, BRCA2, CHEK2, or PALB2, who identified their family's origins to an Asian country, were recruited from the Stanford Cancer Genetics Research Database in October-November 2021. Utilizing a constructivist approach, we conducted sixteen semi-structured interviews around family communication and cascade genetic testing. The research team analyzed the transcript data using a reflexive thematic approach. Extensive discussions between the research team resulted in three primary themes presented in this paper: (1) the role of family health beliefs in cascade genetic testing, (2) changes in communication as a result of genetic testing, and (3) genetics providers' role in supporting family discussions on cascade genetic testing. Certain health beliefs, such as perceived susceptibility to cancer and self-efficacy to take action, were co-created by family members and these shared beliefs influenced decisions about genetic testing, family communication, and family support during the cascade genetic testing process. Participants shared strategies for how genetics providers can prepare Asian patients for more effective conversations with relatives and better address potential testing barriers by tailoring information and providing anticipatory guidance. This study represents an important contribution to the literature about cascade testing among an underrepresented group. Shared family health beliefs about genetic testing may be particularly relevant for this community and these findings can inform strategies to increase cascade genetic testing in Asian families.

As demand for genetic cancer risk assessment (GCRA) continues to increase, so does the sense of urgency to scale up efforts to triage patients, facilitate informed consent, and order genetic testing for cancer risk. The National Society of Genetic Counselors outlines the elements of informed consent that should be addressed in a GCRA session. While this practice resource aims to improve health equity, research on how well the elements of informed consent are implemented in practice is lacking. This retrospective and prospective mixed-methods study assessed how adequately the elements of informed consent are addressed during pre-test GCRA among 307 community clinicians (CC) and 129 cancer genetic counselors (GC), and barriers they face to addressing these elements. Results revealed that more than 90% of both cohorts consistently addressed components of at least 5 of the 10 elements of informed consent during a pre-test consultation. Technical aspects and accuracy of the test and utilization of test results were the most similarly addressed elements. Notably, GCs more often review the purpose of the test and who to test, general information about the gene(s), and economic considerations whereas CCs more often review alternatives to testing. Both cohorts reported psychosocial aspects of the informed consent process as the least adequately addressed element. Time constraints and patient-related concerns were most often cited by both cohorts as barriers to optimal facilitation of informed consent. Additional barriers reported by CCs included provider lack of awareness, experience, or education, and availability of resources and institutional support. Findings from this study may contribute to the development of alternative delivery models that incorporate supplementary educational tools to enhance patient understanding about the utility of genetic testing, while helping to mitigate the barrier of time constraints. Equally important is the use of this information to develop continuing education tools for providers.

As personalized medicine has gained traction, drug development models in the biotechnology and pharmaceutical industry (BPI) have increasingly sought to address medical conditions with a genetic component, creating an opportunity for genetic counselors (GCs) to fill new roles and utilize their unique training to contribute to drug development. Despite the potential for GCs in BPI, literature around the role of GCs in this industry has been limited. Our mixed methods study aimed to assess how the roles of GCs in BPI have evolved since 2016, investigate the value of and opportunity for GCs in this industry, and further characterize their motivation and job satisfaction. Participants were recruited via social media advertising, snowball sampling, and email listservs from the National Society of Genetic Counseling (NSGC), the Canadian Association of Genetic Counselors (CAGC), and the American Board of Genetic Counseling (ABGC). Survey (n = 20) and interview (n = 6) data indicates many aspects of GC roles in BPI are consistent with the 2016 study. However, there is evidence of roles becoming more varied and with increasing recognition of the value of GCs, opportunities for involvement in BPI are growing. Furthermore, combined study data found that GCs are motivated by the flexibility of BPI roles as well as the opportunity to contribute to rare disease treatment development and that they are overall satisfied with most aspects of their jobs. Interview data also found that genetic counseling training has the potential to improve clinical trial design and outcomes by making drug development more patient-centric. Finally, combined study data found that while GCs continue to utilize Accreditation Council of Genetic Counseling (ACGC) practice-based competencies (PBCs), business-related training may benefit GCs seeking to enter BPI. Together, these findings are critical for informing genetic counseling training programs, employers within BPI, and GCs interested in entering these positions.

As clinical genetic testing in the amyotrophic lateral sclerosis (ALS) diagnostic setting increases, the identification of at-risk family members has also expanded. No practice guidelines specifically for predictive genetic testing exist, and few studies about the psychological impacts of testing in this subgroup have occurred, limiting the ability to tailor recommendations and counseling in this community. We surveyed asymptomatic individuals at risk for inheriting an ALS-associated gene mutation. The 80-question survey was designed using a combination of validated measures (General Anxiety Disorder; FACToR; Decision Regret Scale) and original items. Ninety participants completed the survey, including those who completed predictive genetic testing (N = 42) and those who did not (N = 48). Gene positive individuals experienced greater negativity, uncertainty, and overall psychological impairment (p = 0.002; p < 0.001; p = 0.001). Individuals who had not undergone testing reported thinking about their risk multiple times per day and experiencing more decisional regret than those who tested (p = 0.006). In terms of decision-making, being prepared for potential clinical drug trials was a more important potential benefit among those who underwent testing (p = 0.026). Participants valuing preparedness for clinical drug trials supports the concept that genetic testing for ALS will increase as research in gene-targeted therapeutics progresses. This study describes factors relevant to the genetic testing decision-making process and adaptation to results from the perspective of at-risk individuals, which can ultimately guide genetic counseling practice in this population.

Huntington's disease is a genetic neurodegenerative condition with wide physical and psychological impacts. Children of a parent with the condition have a 50% chance of carrying the gene expansion and developing the condition themselves. This systematic review and meta-ethnography presents a synthesis of the qualitative research on the experiences of young people growing up in a family with Huntington's disease. The MEDLINE, PsycINFO, and CINAHL databases were systematically searched, and 13 papers met the inclusion criteria. Through the process of meta-ethnography, four themes were identified highlighting aspects of childhood that were stolen and fought for: thief of relationships, thief of self, thief of transparency, and search for reclamation. Within the themes, the complex challenges young people faced when growing up in a HD family were explored such as the impact of adverse childhood experiences and the possible effects of HD on attachment and social relationships. Clinical implications are considered, and recommendations are made for future research.

Many pregnant people learn of fetal anomalies in the second trimester and subsequently present to prenatal genetic counselors (PGCs) for counseling, including but not limited to a nuanced discussion about whether to continue or terminate pregnancy. In those who choose to terminate, the decision between dilation and evacuation (D&E) or induction is often one of patient preference and as such, is heavily influenced by the quality of counseling received. PGCs are expertly trained to provide values-based counseling, yet little is known about their termination counseling practices, referral practice patterns, and perceived responsibilities in caring for this group of pregnant people. To gain this knowledge, we surveyed a national sample of PGCs in early 2022 and received 70 completed responses. The survey contained open- and closed-ended questions. Data were analyzed using descriptive statistics, and free response data were analyzed using inductive content analysis. Eighty percent (n = 56) of respondents reported that <50% of their patients had previously received termination options counseling. Most strikingly, 15% of respondents provided termination counseling that was beyond their self-identified comfort level. Scenario-based questions assessed respondents' counseling practice patterns in seven real-world situations, presented in order of decreasing severity for the fetus. Respondents were 50% less likely to provide termination options counseling to patients between the most lethal to the least lethal proposed fetal anomaly. The scenario-based analysis revealed two distinct termination counseling approaches: (1) all options counseling with an explicit discussion of options to continue or terminate and (2) discretionary options counseling focused on identifying patient preferences to guide counseling and not explicitly stating all available options. This study highlights the need to ensure PGCs feel well-trained to discuss the general features of second trimester pregnancy termination and, if unable to do so, to practice in systems with timely referral to providers well-versed in the counseling about all methods of termination.

In the Indiana University Health (IUH) Medical Genetics clinic, certified genetic counselors disclose genetic test results to patients by telephone. The wait-time between a result call-out and a follow-up appointment can vary from weeks to months depending on the medical geneticist's availability. Understanding the experiences that families face during these waiting periods can inform the field regarding what clinical improvements can be made to enhance patients' experiences. Our study explored three topics: the effects of wait-times on parents or patients between a result disclosure and medical genetics follow-up appointment, their anxiety levels during those wait-times, and suggestions for improving parents' and patients' experiences with genetics clinics. Patients or parents who were over 18 years old, who received an initial result call-out between May 2020 and September 2022 prior to a medical genetics follow-up appointment, and who had a diagnostic or a variant of uncertain significance (VUS) genetic test result were recruited for study participation. Individuals were surveyed on their diagnosis, wait-time following result disclosure, feelings during the wait-time, and preferences for result disclosures. The results showed that length of wait-time after a result call-out was not associated with increased anxiety; however, a background in genetics and support group involvement were associated with increased anxiety. The majority of respondents reported that if a genetic counseling-only appointment could occur closer to the time of results call-out, they would prefer to have a genetic counseling-only appointment with a second appointment for medical management with a geneticist later (58.1%). Based on these results, medical genetics clinics should consider implementing genetic counseling-only appointments to reduce wait-times for follow-up appointments.

Genetic counselors (GCs) are trained to help individuals navigate the medical and psychological implications of genetic test results, familial conditions, and ultrasound anomalies. Therefore, familiarity with reproductive options, including abortion, is vital. However, previous studies have found gaps in GCs' knowledge regarding abortion care and there are currently no recommendations regarding abortion curriculum. This study aimed to assess the state of abortion curriculum in genetic counseling graduate programs in the United States and to examine and compare the satisfaction levels of program representatives and recent graduates. Program representatives and recent graduates were invited to complete an anonymous survey evaluating the abortion curriculum, satisfaction with said curriculum, and perceived preparedness to counsel on abortion. Quantitative data from 46 program representatives and 123 recent graduates were analyzed using descriptive statistics and appropriate statistical analyses, including the Mann-Whitney U-test and the Kruskal-Wallis test. Large variability existed in the amount and types of abortion training. Results showed greater satisfaction and feelings of preparation to counsel on abortion in graduates whose program provided a dedicated abortion curriculum (p < 0.001, p = 0.005). In addition, graduates with abortion counseling experience felt less prepared to counsel on abortion than their programs believed them to be (p = 0.04). Graduates perceived procedural timing, facilitation of genetic testing, and resources/support desired by patients before, during, or after an abortion, to be the most important topics, although these were not included in all programs' curriculum. Program representatives and recent graduates alike noted that variability in clinical training is a barrier to abortion education. Our results demonstrate a need for curricular reform to reduce variability in training and ensure that all graduates receive the same foundational abortion education. Further research is needed to determine the scope of GCs in abortion care, as well as which topics and education formats are most helpful in graduate education.