Pregnant Latinas' perspectives on pursuing expanded carrier screening: “It is better to know than not”

9.26.2023

With the advance of genetic technologies, the use of expanded carrier screening (ECS) in the prenatal setting is growing. ECS tests for a wide range of inherited genetic disorders regardless of racial/ethnic background and family history. Latinxs are an important ECS stakeholder group as they are the largest minority group with the highest fertility rate in the United States. Yet, the Latinx population has, to date, been underrepresented and understudied in genetics/genomics research. We conducted a study to explore the knowledge and perspectives of pregnant Latinas regarding ECS in which descriptive statistics and content analysis were used to analyze the data. Thirty-two pregnant Latinas – mostly of low educational levels (no education beyond high school) and with less than $20,000 annual household income living in rural areas were surveyed, provided with education about ECS, and interviewed. Participants were found to possess limited knowledge about ECS prior to being interviewed. Most (68.8%), however, expressed interest in pursuing ECS following the educational component that explained ECS. Their interest was mainly driven by the desire to know their baby's chance of developing a genetic disorder, the low risk of ECS procedures for both pregnant Latinas and their fetus, and the opportunity to better prepare for raising a child with a genetic condition. Our findings contribute to the limited research in the genetics/genomics field by providing in-depth insights into the perspectives of pregnant Latinas regarding ECS. Obstetric providers and genetic counselors should provide culturally appropriate education and counseling to empower pregnant Latinas to make informed decisions about the use of ECS.

Read Article

Barriers in applying to genetic counseling Master's degree programs: Perceptions of prospective applicants when compared with Canadian admissions committee members

9.26.2023

The goal of this study was to identify potential barriers in applying to a genetic counseling (GC) Master's degree program to inform strategies for increasing diversity and inclusiveness in the GC student recruitment process. Participants included prospective GC program applicants and admissions committee members from the four Canadian accredited programs. The study was conducted using a quantitative survey-based approach. Twenty-five prospective applicants who previously applied to a GC Master's degree program, 26 who had not applied, and 48 admissions committee members completed the survey. The small number of positions in GC programs was perceived by all groups as highly likely to impact an applicant's ability to gain acceptance to a program as was the limited number of GC training programs. Prospective applicants perceived additional barriers as significantly more likely to impact an individual's ability to apply to/attend a program when compared with admissions committee members including: cost of the application process, the applicant being a visible minority and the applicant having a physical disability. These findings highlight a number of perceived barriers related to applying to a GC Master's degree program. To our knowledge, this is the first study surveying prospective applicants and admissions committee members on barriers faced during the application process. The data from this study can also be used to inform the application process for other health professions.

Read Article

Variability in sickle cell knowledge by sickle cell status

9.26.2023

Disease-specific knowledge allows individuals with sickle cell disease, sickle cell trait, and unaffected family members alike to make informed decisions and support those affected by the condition. The current study assesses how sickle cell knowledge varies by disease status within families affected by sickle cell disease. One hundred seventy-nine participants from 84 families completed an online survey and telephone interview. Generalized linear models, with generalized estimating equations, were fitted to evaluate differences in both item-level responses and total scores on the Sickle Cell Knowledge Scale by sickle cell status. Those with negative or unknown sickle cell status scored significantly lower than those with sickle cell disease or trait, despite being related to someone with sickle cell disease (χ² (2) = 9.72, p = 0.008). Overall, participants performed poorly on items related to sickle cell trait, with limited understanding of autosomal recessive inheritance patterns. The study's findings suggest a need to move beyond patient-centered approaches to family-centered education efforts that reach those with sickle cell traits and negative or unknown status. Findings point to knowledge gaps related to sickle cell trait and patterns of inheritance, representing key enhancement areas for future sickle cell education efforts.

Read Article

Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors

9.26.2023

Diabetes mellitus is a group of diseases characterized by hyperglycemia and its consequences, affecting over 34 million individuals in the United States and 422 million worldwide. While most diabetes is polygenic and is classified as type 1 (T1D), type 2 (T2D), or gestational diabetes (GDM), at least 0.4% of all diabetes is monogenic in nature. Correct diagnosis of monogenic diabetes has important implications for glycemic management and genetic counseling. We provide this Practice Resource to familiarize the genetic counseling community with (1) the existence of monogenic diabetes, (2) how it differs from more common polygenic/complex diabetes types, (3) the advantage of a correct diagnosis, and (4) guidance for identifying, counseling, and testing patients and families with suspected monogenic diabetes. This document is intended for genetic counselors and other healthcare professionals providing clinical services in any setting, with the goal of maximizing the likelihood of a correct diagnosis of monogenic diabetes and access to related care.

Read Article

The development and preliminary evaluation of the Genetic Counseling Skills Checklist

9.26.2023

Genetic counseling (GC) relies on communication to help people understand and adapt to genetic contributions of disease, and there is need for a practical and reliable method of comprehensively documenting GC communication skills without intensive coding. To this end, we created a novel process measure called the Genetic Counseling Skills Checklist (GCSC), utilizing previously validated measures, communication/counseling frameworks, and prior research findings. A multistage iterative process was used to develop, evaluate, and modify the GCSC to improve its clarity, usability, and content validity. To assess interrater reliability, randomly assigned, untrained individuals (i.e., coders) used the GCSC version 3 to code multiple simulated GC sessions. Average measures intraclass correlation coefficients (ICCs) were calculated for each of the 8 GCSC process categories using one-way, random effects models. After relatively minor modifications to the GCSC, two pairs of experienced coders used GCSC version 4 to independently code additional GC sessions and Cohen's Kappa coefficients (κ) were calculated to assess interrater reliability for each process category. The GCSC contains five to eight items within each category and demonstrates good content validity given its ability to capture nearly all GC skills that genetic counselors reported using in a prior qualitative study. Interrater reliability of GCSC version 3 among coders with limited experience was moderate or good for 6 out of the 8 process categories as evidenced by ICCs ranging from 0.55 to 0.86. Average interrater reliability of GCSC version 4 among one pair of experienced coders was strong for all eight process categories (κ ranging from 0.82 to 0.94); among the second pair of experienced coders scores were strong for six categories (κ ranging from 0.80 to 0.87) and moderate for two categories (κ of 0.77 and 0.78). The results suggest the need for training and experience to assure adequate interrater reliability across GCSC coders. Future work is needed to create a formalized training program for coders, complete a larger study to further validate the measure, and use the GCSC to document variability in skills used across providers and sessions.

Read Article

Should genes for non-syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness

9.26.2023

Many commercial reproductive genetic carrier screening (RGCS) panels include genes associated with non-syndromic hearing loss (NSHL), however little is known about the general acceptability of their inclusion. Although some couples wish to avoid having a deaf child, there are effective interventions and supports available for deafness, and no consensus on whether it is appropriate to reproductively screen NSHL genes. This study explored views of people with personal experience of deafness regarding carrier screening for genes associated with NSHL. We interviewed 27 participants; 14 who identified as deaf and 13 hearing parents of a deaf child. Thematic analysis was undertaken on transcripts of interviews. The findings reveal the complexity of attitudes within these groups. Some vacillated between the wish to support prospective parents' reproductive autonomy and concerns about potential harms, especially the expression of negative messages about deafness and the potential loss of acceptance in society. While some participants felt carrier screening could help prospective parents to prepare for a deaf child, there was little support for reproductive screening and termination of pregnancy. Participants emphasized the need for accurate information about the lived experience of deafness. The majority felt deafness is not as severe as other conditions included in RGCS, and most do not consider deafness as a disability. People with personal experience of deafness have diverse attitudes towards RGCS for deafness informed by their own identify and experience, and many have concerns about how it should be discussed and implemented in a population wide RGCS program.

Read Article

Reproductive decision-making and the utilization of preimplantation genetic testing among individuals with inherited aortic or vascular disease

9.26.2023

Preimplantation genetic testing for monogenic disorders (PGT-M) is a reproductive technology used in conjunction with in-vitro fertilization (IVF) to reduce the risk of passing on a known genetic condition from parent to child. There is limited research describing the experience and emotional impact of PGT-M among individuals with inherited aortic or vascular disease (IAVD). Our qualitative study aims to explore the factors that influence reproductive decision-making and the uptake of PGT-M within this population. Individuals diagnosed with IAVD who have considered PGT-M, and/or their reproductive partner, were recruited using internal clinical databases and advocacy organizations. Virtual semi-structured interviews were conducted using an interview guide that included questions related to participants' lived experience of their condition, risk perception, reproductive history, familiarity with PGT-M/IVF, and financial/psychosocial considerations. A total of 17 interviews were completed (13 affected individuals, 4 unaffected partners) and analyzed using thematic analysis. Emergent themes included: (1) the lived experience and perceived severity of disease; (2) need for comprehensive, balanced, and timely information; (3) and impact of personal values and circumstances. When discussing the impact of lived experience on reproductive decision-making, participants identified the physical and emotional impact of disease and variability of disease as factors influencing the uptake of PGT-M. Many described PGT-M as the only reproductive option presented to them by providers. Even so, participants expressed gaps in their understanding of PGT-M, particularly regarding cost/insurance coverage and the experience of IVF. Finally, participants recognized that the decision to pursue PGT-M primarily requires introspection and evaluation of one's values, but that cost remains a significant consideration. The findings from our study highlight the complexity of reproductive decision-making for individuals with IAVD and provide insight into their psychological and informational needs when engaging in this process. Providers can use these findings to tailor their discussions about reproductive decision-making with this patient cohort.

Read Article

Factors influencing applicants' rank order in the Genetic Counseling Admissions Match

9.26.2023

Previous studies have identified factors that influence genetic counseling applicants' decisions to initially apply to certain schools. However, research on the factors that influence their Genetic Counseling Admissions Match (GCAM) rank order preferences are limited. The purpose of this study was to investigate these factors via an online survey sent to current students and recent graduates who participated in the GCAM. Participants (N = 415) were asked to rank factors within six categories (faculty, students, didactic curriculum, clinical training, cost of attendance, and general program information) on a 7-point Likert scale. Factors related to clinical training were most influential to applicants (M = 5.68), while factors related to didactic training were least influential to applicants (M = 4.63). Several significant differences existed between underrepresented and overrepresented applicants; overrepresented was defined as White, non-Hispanic female. Underrepresented applicants were more influenced by the diversity of program faculty (p = 0.016), students (p ≤ 0.001), and the location/patient population (p = 0.003), while overrepresented applicants are more influenced by program graduation and board pass rates (p = 0.021). The results of our study suggest that GCAM rank preferences are influenced by a large number of factors. Additionally, by demonstrating significant differences in the influence of program diversity on underrepresented applicants, the results of our study suggest that JEDI efforts of genetic counseling training programs should continue to be an area of focus, in order to create a more welcoming environment for all students and to further diversify the genetic counseling profession.

Read Article

The review of genetic screening services and common BRCA1/2 variants among South African breast cancer patients

9.26.2023

The South African genetic screening services for breast cancer comprise targeted and comprehensive tests that screen for the presence of genetic alterations. Clinically, these variants determine the risk of disease development as well as treatment approaches best suited for carriers. The current targeted tests screen for seven pathogenic sequence variants, which are mainly common among Whites, a population that constitutes 9.1% of South Africa. However, these tests are offered to all patients despite consistent negative results observed among Blacks, Indians, and Mixed ancestry (known as Coloreds in South Africa). Consequently, Blacks, White, and Colored patients who potentially carry other variants receive unbefitting treatment, resulting in poor clinical response, recurrence, and high mortality. This review aimed to identify the presence and incidence of pathogenic variants in BRCA1/2 previously reported in all South African populations. We selected literature using a scoping review approach, from which we included eight articles and two reports. Overall, we identified 59 BRCA1 and 60 BRCA2 pathogenic sequence variants from a cohort of 5709 patients and unknown patients from 90 families. The most reported variant was BRCA2 c.7943delG, which was common in White and Colored patients. None of the seven common variants was reported in either Blacks or Indians, which demonstrates the urgency to tailor genetic tests which are optimal for all South African patients and present a range of variants which could serve as diagnostic targets for Black, Indian, and Colored patients.

Read Article

Incorporating telehealth education into the genetic counseling curriculum

9.26.2023

As the provision of telehealth genetic counseling (THGC) services continues to expand, it is imperative that genetic counseling students gain proficiency in telehealth service delivery. To prepare students to provide THGC services, the MSGC program at the University of Pennsylvania has included didactic sessions on THGC, THGC role plays, THGC standardized patient sessions, and THGC fieldwork experiences and clinical rotations. This article highlights best practices in THGC and guidance for Master of Science in Genetic Counseling (MSGC) programs training the next generation of genetic counselors providing THGC services.

Read Article

First Previous 2 3 4 5 6 7 8 9 10 11 Next Last

Back to NSGC In the News

Newsroom

9.26.2023

9.26.2023

9.26.2023

9.26.2023

9.26.2023

9.26.2023

9.26.2023

9.26.2023

9.26.2023

9.26.2023