Genetic Counseling Program Research Articles

The Accreditation Council for Genetic Counseling's response to COVID-19 impact on genetic counseling programs.

Journal of Genetic CounselingVolume 30, Issue 4 p. 1046-1056 SPECIAL ISSUE The Accreditation Council for Genetic Counseling’s response to COVID-19 impact on genetic counseling programs Dawn C. Allain, Dawn C. Allain Division of Human Genetics, Department of Internal Medicine, College of Medicine, The Ohio State University, Columbus, OH, USASearch for more papers by this authorSusan Randall Armel, Susan Randall Armel Department of Medicine, Familial Cancer Clinic, University Health Network, University of Toronto, Toronto, ON, CanadaSearch for more papers by this authorErin P. Carmany, Erin P. Carmany Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, USASearch for more papers by this authorHeather Creswick, Heather Creswick Virginia Commonwealth University, Richmond, VA, USASearch for more papers by this authorSarah B. McBrien, Sarah B. McBrien College of Allied Health Professions, University of Nebraska Medical Center, Omaha, NB, USASearch for more papers by this authorE. Kate Reed, E. Kate Reed The Jackson Laboratory, Bar Harbor, ME, USASearch for more papers by this authorJanet L. Williams, Corresponding Author Janet L. Williams [email protected] orcid.org/0000-0002-4604-3933 Genomic Medicine Institute, Geisinger, Danville, PA, USA Correspondence Janet L. Williams, Genomic Medicine Institute, Geisinger, Danville, PA, USA. Email: [email protected]Search for more papers by this author Dawn C. Allain, Dawn C. Allain Division of Human Genetics, Department of Internal Medicine, College of Medicine, The Ohio State University, Columbus, OH, USASearch for more papers by this authorSusan Randall Armel, Susan Randall Armel Department of Medicine, Familial Cancer Clinic, University Health Network, University of Toronto, Toronto, ON, CanadaSearch for more papers by this authorErin P. Carmany, Erin P. Carmany Center for Molecular Medicine and Genetics, Wayne State University School of Medicine, Detroit, MI, USASearch for more papers by this authorHeather Creswick, Heather Creswick Virginia Commonwealth University, Richmond, VA, USASearch for more papers by this authorSarah B. McBrien, Sarah B. McBrien College of Allied Health Professions, University of Nebraska Medical Center, Omaha, NB, USASearch for more papers by this authorE. Kate Reed, E. Kate Reed The Jackson Laboratory, Bar Harbor, ME, USASearch for more papers by this authorJanet L. Williams, Corresponding Author Janet L. Williams [email protected] orcid.org/0000-0002-4604-3933 Genomic Medicine Institute, Geisinger, Danville, PA, USA Correspondence Janet L. Williams, Genomic Medicine Institute, Geisinger, Danville, PA, USA. Email: [email protected]Search for more papers by this author First published: 05 July 2021 https://doi.org/10.1002/jgc4.1456Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Volume30, Issue4Special Issue: COVID‐19 Special IssueAugust 2021Pages 1046-1056 RelatedInformation

Gender imbalance in the genetic counseling profession: An Australasian perspective.

Gender imbalance exists in the genetic counseling profession, with approximately 95% of genetic counselors identifying as female. Genetic counseling programs in Australia have increased the proportion of male student enrolments in recent years, although this is yet to have an impact on gender balance in the profession more broadly. While significant resources have been allocated to improving female representation in traditionally male professions, there has not been a reciprocal movement of men into traditionally female professions. The lower status awarded to traditionally female roles creates a disincentive for men to choose non-traditional career paths. Although genetic counselors have expertise in both genetics and counseling, the profession is viewed as a predominantly helping profession and therefore 'women's work'. Men who work in traditionally female roles report role strain and stereotyping, which affect experiences at work and challenge personal identities. Male advantage is also documented, especially with respect to salary. There remains a lack of understanding of the effect of gender imbalance on aspects of patient care, genetic counselor training and education, and genetic counseling research.

Utilization of breast cancer risk prediction models by cancer genetic counselors in clinical practice predominantly in the United States.

Risk assessment in cancer genetic counseling is essential in identifying individuals at high risk for developing breast cancer to recommend appropriate screening and management options. Historically, many breast cancer risk prediction models were developed to calculate an individual's risk to develop breast cancer or to carry a pathogenic variant in the BRCA1 or BRCA2 genes. However, how or when genetic counselors use these models in clinical settings is currently unknown. We explored genetic counselors' breast cancer risk model usage patterns including frequency of use, reasons for using or not using models, and change in usage since the adoption of multi-gene panel testing. An online survey was developed and sent to members of the National Society of Genetic Counselors; board-certified genetic counselors whose practice included cancer genetic counseling were eligible to participate in the study. The response rate was estimated at 23% (243/1,058), and respondents were predominantly working in the United States. The results showed that 93% of all respondents use at least one breast cancer risk prediction model in their clinical practice. Among the six risk models selected for the study, the Tyrer-Cuzick (IBIS) model was used most frequently (95%), and the BOADICEA model was used least (40%). Determining increased or decreased surveillance and breast MRI eligibility were the two most common reasons for most model usage, while time consumption and difficulty in navigation were the two most common reasons for not using models. This study provides insight into perceived benefits and limitations of risk models in clinical use in the United States, which may be useful information for software developers, genetic counseling program curriculum developers, and currently practicing cancer genetic counselors.

Institutional and Social Issues Surrounding Genetic Counselors in Japan: Current Challenges and Implications for the Global Community.

In recent years, genetic counseling has started playing a major role in the field of genomic medicine. There are currently about 7,000 genetic counselors in more than 28 countries, with 267 certified genetic counselors in Japan alone (about 2 per million population, as of April 2020). While the rapid advancement of genomic medicine has expanded this field, the challenges genetic counselors face are also evolving. This article aims to provide an overview of the institutional and social issues surrounding genetic counselors in Japan and discuss implications for the global community. In Japan, with the rapid changes in genomic medicine and the establishment of a delivery mechanism within the healthcare system, several issues need to be discussed. First, many genetic testing, counseling, and preventive healthcare programs are not covered by public health insurance. Second, reducing human resource shortages for genetic counseling is an urgent issue. Third, the lack of a national qualification in the profession is critically important issue in the field. Fourth, research on the role and value of genetic counselors is still limited. To address these issues, discussions among relevant stakeholders, including genetic counselors, professionals in genomic medicine, and lawmakers, are necessary. Additionally, we believe that research by genetic counselors to evaluate and improve their practice and examine institutional and social issues is crucial for developing their profession’s activities and delivering high-quality healthcare to many people. To establish the position and role of the relatively new profession of genetic counselor, sharing information and collaborating on institutional and social challenges faced by genetic counselors globally will be beneficial.

Examining career shadowing in genetic counseling: Perspectives of shadowees, program directors, and genetic counselors.

Career shadowing can be a valuable opportunity for individuals to experience the daily activities of a working professional. However, there is no published research regarding the impact of shadowing for individuals hoping to pursue a career as a genetic counselor (GC) (termed 'shadowees'). Additionally, little is known about the impact of shadowing on practicing GCs, nor the value of shadowing in the application and admission process for genetic counseling graduate programs. For this study, three independent surveys were developed and sent to three stakeholder groups: shadowees in the Minnesota Genetic Counseling Experience Program, program directors within the Association of Genetic Counseling Program Directors, and members of the National Society of Genetic Counselors. Quantitative and qualitative analyses were performed on responses. The survey of shadowees (n=55) found that the majority believed that shadowing had either a 'very' or 'somewhat positive' impact on their decision to become a GC and on their application to a genetic counseling graduate program (81.8% and 91.3%, respectively). Of the participating program director respondents (n=43), the majority indicated that having shadowing experience was either 'moderately' or 'extremely important' in offering an interview or for acceptance into a graduate program (63% and 56%, respectively). While programs differ in evaluation of shadowing experiences, most program directors indicated that an applicant's ability to speak to their shadowing experience was the most important factor in admissions consideration (71%). Among the GCs surveyed (n=325), 69.2% have hosted shadowees; of these, 82.7% indicated that hosting a shadowee decreases their efficiency at work. Despite this drawback, the majority of respondents expressed a willingness and motivation to host shadowees to help the shadowee (64.8%) and to promote the genetic counseling profession (32.6%). These findings suggest the need for additional research and the development of resources for GCs to increase access of career shadowing.

The Role of Genetic Mutations in the Prevention of Malignant Tumours in a Healthy Population (A Review)

The prevention of malignant neoplasms in a healthy population is a priority task of national healthcare systems. Population screening and genetic counselling programmes allow identification of not only precancerous conditions, but also a genetic susceptibility to tumour diseases. Most hereditary cancers are passed on following an autosomal dominant pattern. Timely screening in healthy individuals, who may be potential carriers of mutated genes, facilitates the development of personalized preventive measures. The history of breast and/or ovarian cancer in close relatives is an important factor in early detection of genetic mutations in healthy patients, both women and men. The history of breast, ovarian or prostate cancer in close relatives increases significantly the chances of detecting a germinal mutation in the BRCA1 and BRCA2 genes in a proband. Genes associated with an increased risk of developing pancreatic cancer are BRCA1, BRCA2, CDKN2A, PALB2, PRSS1 and STK11. The most common syndromes of genetic mutations increasing the risk of cancer development include hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, Peutz—Jeghers syndrome and Lee­Fraumeni syndrome, multiple endocrine neoplasia syndrome.

Asesoramiento genético a una portadora asintomática de DMD: Primer caso reportado en el Sistema de Salud Pública del Perú

La distrofia muscular de Duchenne (DMD) es una distrofinopatía rápidamente progresiva con herencia ligada al cromosoma X. Este reporte describe el caso de una mujer con historia familiar de hermano y sobrinos con DMD, que acudió a consulta para orientación e información sobre riesgos inherentes a una eventual planificación familiar. Le propusimos participar en un programa piloto de asesoramiento genético para determinar su estado de portador o no de la variante causal de DMD en la familia. Esta primera experiencia ilustra la importancia de tener un programa de asesoramiento genético para el diagnóstico de portadores asintomáticos de enfermedades neurogenéticas en regiones con bajos recursos. Se incluyen reflexiones y comentarios sobre aspectos positivos y retos presentados durante el proceso, las políticas de apoyo presente y futuro para el afronte de los complejos problemas planteados por éste y similares diagnósticos.

Knowledge and awareness of genetic diseases among residents of the western region of Saudi Arabia

Background: Genetic diseases result from gene mutations that disrupt the function of body systems, and most of them cannot be treated. Genetic diseases are a serious issue responsible for severe economic, emotional, and health impacts on patients and their families. In Saudi Arabia, consanguineous marriage is common, leading to an increased prevalence of genetic diseases. Therefore, Saudi Arabia has endeavored to reduce the frequency of genetic diseases by implementing the premarital screening program, which is mandatory and accessible for people planning to get married, and the genetic counseling program. Methods: In this study, we investigated the awareness and knowledge of genetic diseases among residents of the western region of Saudi Arabia, and we conducted a cross-sectional survey focusing on the level of awareness and knowledge of genetic diseases and available health care. Results: We found that the residents of the western region had good knowledge about genetic diseases, but 96.10% lacked the awareness of health services provided for this type of disease. Furthermore, 91.90% of them had a positive attitude toward genetic testing. Conclusion: The present study found that Saudi society had a good attitude toward genetic testing, such as prenatal and preimplantation genetic diagnosis. Many of the study participants were not aware, where to access genetic tests for their families, and most considered health services for patients with genetic diseases to be rudimentary, thus pointing out a lack of awareness and knowledge toward health services.

The Canadian genetic counseling workforce: Perspectives from employers and recent graduates.

There is a lack of literature devoted to the Canadian genetic counseling workforce. Current and prospective genetic counseling students, graduates, employers, programs, and funding agencies remain largely uninformed of trends in the job market. The purpose of this study was to investigate the employment experiences of recent Canadian genetic counseling graduates and employers of genetic counselors (GCs) in Canada. An online survey was distributed to Canadians who had graduated from North American genetic counseling programs from 2014 to 2018 and to employers with experience hiring patient-facing genetic counselors from 2016 to 2018. Quantitative data were analyzed through descriptive statistics and, where appropriate, logistic regression. Qualitative data were reviewed to illustrate and support the quantitative data. Half of the employer responders (11/22) reported hiring more or many more genetic counselors compared to 3years ago (2016), and a majority (n=19, 86%) reported a desire to hire at least one more genetic counselor if funding were available. Most graduates (45/70, 64%) reported securing employment before graduation, 33% (n=23) within 6months of graduation, and no one taking longer than 1year. For recent graduates, location was the most important factor when looking for work, and those who chose to work in Canada experienced significantly more challenges gaining employment as opposed to those who worked internationally (p=0.03). The specialties in highest demand for genetic counselors and the most common areas of practice for recent graduates included adult general genetics, prenatal genetics, and cancer genetics. Overall, our findings suggest that there is a growth of employment opportunities in Canada and more employer-reported need for clinical genetic counselors; however, there is a lack of funding to support this expansion.

Epidemiology of Thalassemia in Gulf Cooperation Council Countries: A Systematic Review.

Background Thalassemia has a burden on the healthcare systems of many countries. About 56000 conceptions result in thalassemia, globally. Objective To assess the epidemiological profile of thalassemia in the Gulf Cooperation Council (GCC) countries. Methods A systematic search was conducted in MEDLINE/PubMed (National Library of Medicine), CINAHL, and Embase. Relevant observational studies reporting the epidemiology of thalassemia among the GCC population were selected. Data on the prevalence, frequency, and complications of thalassemia were extracted. The quality of the retrieved studies was assessed according to the Newcastle–Ottawa Quality Assessment Scale. Results Eighteen studies (14 cross-sectional studies, two retrospective observational studies, and two retrospective analysis) with a total of 3343042 participants were included in this systematic review. Of the 18 studies, 11 studies were conducted in Saudi Arabia, two in the Kingdom of Bahrain, one in Kuwait, three in the United Arab Emirates (UAE), and one in Qatar. The prevalence of thalassemia among children below five years of age ranged from 0.25% to 33%, while it was 0.9% in children above five years and from 0.035% to 43.3% among adult thalassemia patients. The most-reported risk factors were consanguineous marriage and high-risk marriage. There was a lack of data regarding mortality rates in thalassemia. Conclusions Despite the premarital screening and genetic counseling (PMSGC) program for thalassemia, the incidence of high-risk couple marriages in GCC countries cannot be effectively diminished. This study suggested that the PMSGC program should adopt more attention for the high-risk areas, to enhance the level of consciousness about the hemoglobinopathy diseases and the consequences of consanguinity among the at-risk couple.

Characterizing standardized patients and genetic counseling graduate education.

Standardized patients (SPs) are laypersons trained to portray patients, family members, and others in a consistent, measurable manner to teach and assess healthcare students, and to provide practice for emotionally and medically challenging cases. SP methodology has been studied with practicing genetic counselors; however, there is minimal empirical evidence characterizing its use in genetic counseling (GC) education. The Accreditation Council for Genetic Counseling (ACGC) Standards of Accreditation for Graduate Programs in Genetic Counseling include SP sessions as one way to achieve up to 20% of the 50 participatory cases required for graduation. The purpose of the current project was to determine the scope, frequency, and timing of SP methodology in ACGC-accredited programs to establish baseline usage, which happened prior to the SARS-CoV-2 pandemic. A 40-item investigator-created survey was developed to document the scope and frequency of SP use among programs. The survey was distributed through the Association of Genetic Counseling Program Directors' (AGCPD) listserv to 43 accredited and 6 programs under development. Surveys were analyzed from 25 accredited programs (response rate=58%). Seventeen of these programs report inclusion of SP methodology in the curricula (68%), of which 13 report working with an established SP program. SPs are used predominantly for role-plays (70.6%), individualized instruction and remediation (29.4%), and for other reasons such as lecture demonstration, final examinations, practicing skills, and assessing students' goals. Sixteen of the participating programs use SPs to give GC students experience disclosing positive test results. Other details vary among the GC programs including the use of trained SPs, volunteer or paid SPs, actors with and without SP training, or GC students acting as patients. This study demonstrates that GC program SP experiences differ, but are largely viewed as valuable by the programs. Many GC programs report using SP encounters to create multiple opportunities for students to practice and refine clinical skills similar to SPs in medical school.

Unrelated Individuals of Self-Reported White/Caucasian Ancestry with the P.Val142Ile (V122I) Variant of Hereditary Transthyretin-Mediated Amyloidosis are Phenotypically Similar to those with Self-Reported Black/African-American Ancestry

Introduction Hereditary transthyretin-mediated (hATTR) amyloidosis is an autosomal dominant disease characterized by extracellular deposition of amyloid fibrils composed of transthyretin (TTR) protein, with the majority of patients developing a mixed phenotype of polyneuropathy and cardiomyopathy. The most common variant in the United States is p.Val142Ile (V122I) with a prevalence of 3-4%, most commonly observed in the Black/African-American population. To facilitate earlier diagnosis, Alnylam Pharmaceuticals, Inc and Invitae have partnered to offer Alnylam Act®, a no-charge sponsored genetic testing and counseling program for individuals ≥18 years old with suspected diagnosis of hATTR amyloidosis or a confirmed family history of hATTR amyloidosis. A novel cohort of self-reported White/Caucasian unrelated individuals with the p.Val142Ile (V122I) variant has been identified by this program. Methods Between April 2017 and March 2020, 21,235 unrelated individuals were tested for TTR variants in a CLIA-certified laboratory. We analyzed all unrelated individuals with the p.Val142Ile (V122I) variant discovered through the Alnylam Act® program, including all reported demographic (e.g., age, ancestry) and symptomatic characteristics available. Results In total, we observed 795 unrelated individuals with the p.Val142Ile (V122I) variant. We identified 29 unrelated individuals of White/Caucasian ancestry and who carry the p.Val142Ile (V122I) variant, which represents 11.4% of the 254 unrelated White/Caucasian individuals with a TTR positive variant found within the Alnylam Act® program to date. The reported symptoms in these individuals are similar to the Black/African-American p.Val142Ile (V122I) population in this cohort (Figure). Conclusions A novel cohort of White/Caucasian unrelated individuals with the p.Val142Ile (V122I) TTR variant has been identified with similar reported clinical features compared to those with Black/African-American ancestry and the same variant. This is the largest single cohort of individuals of White/Caucasian ancestry with the p.Val142Ile (V122I) variant to be reported thus far, demonstrating the importance of TTR testing in individuals with symptoms of hATTR amyloidosis regardless of self-reported ancestry.

Asymptomatic Individuals with Family History of Hereditary Transthyretin-Mediated Amyloidosis can be Detected almost Two Decades Earlier Than Symptomatic Probands

Introduction Hereditary transthyretin-mediated (hATTR) amyloidosis is an autosomal dominant disease characterized by extracellular deposition of amyloid fibrils composed of transthyretin (TTR) protein, with the majority of patients developing a mixed phenotype of polyneuropathy and cardiomyopathy. To facilitate earlier diagnosis, Alnylam Pharmaceuticals, Inc and Invitae have partnered to offer Alnylam Act®, a no-charge sponsored genetic testing and counseling program for individuals ≥18 years old with suspected diagnosis or a confirmed family history of hATTR amyloidosis. We sought to determine if reported family history and/or symptoms correlated to earlier detection of TTR variants in this cohort. Hypothesis We hypothesized that age at time of testing was earlier in individuals with a reported family history compared to probands with reported symptoms and no family history. Methods From April 2017 to March 2020, 21,235 unrelated individuals were tested for TTR variants in a CLIA-certified laboratory. We analyzed three groups: (1) probands with reported symptoms and positive family history, (2) probands with reported symptoms without family history, and (3) asymptomatic individuals with family history of hATTR amyloidosis. Family members who were also tested through the program were excluded from analysis. Results The overall yield of positive TTR genetic tests in symptomatic probands with no reported family history was 778/20134 (3.9%), which was lower compared to those with reported family history (symptomatic 26.7%; asymptomatic 31.5%; Table 1). Among 778 symptomatic probands with no reported family history and positive TTR results, mean age at testing was 70.5 years. In contrast, those with family history were tested at an earlier age (symptomatic 59.3 years, p Conclusions Mean age at testing of TTR positive asymptomatic individuals with a reported familyhistory of hATTR amyloidosis is lower than TTR positive symptomatic probands without a family history by almost two decades, with an 8-fold higher yield (OR 11.4, 95% CI: 9.5-13.8). Here, we demonstrate knowledge of family history alone is a powerful predictor of the presence of TTR variants, emphasizing the importance of family testing once a confirmed case is identified, which may facilitate earlier diagnosis.

The Rise of the GRN C157KfsX97 Mutation in Southern Italy: Going Back to the Fall of the Western Roman Empire.

Frontotemporal lobar degeneration (FTLD) designates a group of neurodegenerative diseases with remarkable clinical, pathological, and genetic heterogeneity. Mutations in progranulin gene (GRN) are among the most common causes of familial FTLD. The GRN C157KfsX97 mutation is the most frequent mutation occurring in Southern Italy and has been already described in a previous work. In this study, we reported on additional cases carrying the same mutation and performed a genetic study on the whole cohort, aiming at demonstrating the existence of a founder effect and estimating the age of this mutation. Based on the haplotype sharing analysis, a founder effect was highly probable, while the age of the mutation, estimated by means of DMLE+ software, resulted in a range between 52 and 82 generations, with the highest frequency at about 62 generations, 1,550 years ago. This is the first study that reports the age estimation of the most recent common ancestor for the GRN C157KfsX97 mutation recurring in Southern Italy. Mutation dating in a geographically restricted population may be useful in order to plan genetic counseling and screening programs in the field of public health.

Genetic counseling student demographics: an empirical comparison of two cohorts

Genetic counseling student characteristics may be evolving with the expansion and diversification of the genetic counseling field. We compared characteristics and previously accrued experiences of genetic counseling students enrolled in the 2018-2019 academic year with genetic counseling students surveyed by Lega et al. (Journal of Genetic Counseling, 14, 395; 2005). Four-hundred thirty students completed a survey (60% response rate) assessing demographics, select application experiences, encouragement and discouragement to apply to genetic counseling programs, and career certainty and motivations. Data analyses comprised descriptive statistics, content analysis of open-ended responses, and t tests and chi-square tests to compare responses to variables also assessed by Lega et al. Similarities between the two cohorts included most students being female, White/Caucasian, and biology majors; they reported a similar amount and type of support and discouragement; and they had strong career certainty. Salient group differences included the current cohort having a larger proportion of males (8% versus 3%; p=.007), greater percentage of parent(s) with a high socioeconomic status (SES; 31% versus 17%; p=.005), a lower first application cycle acceptance rate (71% versus 80%; p<.001), and they were more strongly influenced to pursue genetic counseling by future income (p<.001), desire to help others (p=.002), the profession's prestige (p<.001), and programs' 2-year duration (p<.001). Students applied to an average of six programs during their first application cycle and paid, on average, $1,648 for all application and interview expenses in their acceptance year. A vast majority (99%) had advocacy experiences (most commonly crisis intervention) and shadowing opportunities (94%), and 26% worked as genetic counseling assistants prior to their acceptance. Most students were interested primarily in cancer genetics at the time of survey completion. The genetic counseling field should continue efforts to improve racial and gender diversity and identify ways to increase program accessibility/affordability for individuals at all SES levels.

Who we are, what we do, and how we add value: The role of the genetic counseling 'philosophy of practice' statement in a changing time.

As genetics and genomics are integrated into health care and non-genetic health professionals deliver aspects of genetic counseling, it is increasingly important for genetic counselors to be able to define who we are, what we do, and how we add value to client interactions, both on an individual and professional basis. In this paper, we argue that to understand ourselves as individual practitioners and as a profession, we each need to reflect on, write, and constantly review our own philosophy of practice. A philosophy of practice is a dynamic, personal, and reflective statement or narrative that captures the core ideas, values, and beliefs of the individual about their chosen profession, including concrete examples of what this involves in practice. Here, we consider the nature, purpose, and relevance of a philosophy of genetic counseling practice, drawing on examples from professions such as teaching and nursing, where the exercise of writing a philosophy of practice is more established. We demonstrate how and why we have introduced writing a philosophy of practice into our Master of Genetic Counseling program at University of Technology Sydney and consider the possibilities for introducing such practice into professional registration or certification processes. Finally, we offer our own philosophy of genetic counseling practice as an example. As the roles and scope of practice for genetic counselors expand and diversify, it is increasingly important to understand, own, and retain our core values and principles as individual practitioners and as a profession. Ensuring client-centered practice remains at the heart of genetic health care is vital. We encourage all genetic counselors to write, publish, and share their philosophy of practice, adding to our collective professional identity in this time of change and opportunity.

Genetic counseling graduate training to address religion and spirituality in clinical practice: A qualitative exploration of programs in North America.

Patients receiving clinical genetics services often navigate emotionally difficult situations and may utilize their faith as a source of support, an aid in decision-making, or a core coping strategy. Although patients have expressed interest in discussing their religious or spiritual (R/S) beliefs with their genetic counselor (GC), GCs may avoid such conversations because they feel they do not have the necessary skills to discuss R/S beliefs (Reis, Baumiller, Scrivener, Yager, & Warren, 2007). This qualitative study explored how GC programs in North America currently prepare their students to discuss R/S matters with their patients. The aims of this study were to identify (1) the R/S topics genetic counseling programs currently cover in the curriculum, (2) how genetic counseling programs evaluate their students within the R/S topics and activities that are included in the curriculum, and (3) the value or importance placed on R/S training by genetic counseling program directors. Leaders of 12 (36%) of the 33 eligible GC programs at the time of the study participated in a semi-structured phone interview. Their responses were coded using open and axial coding techniques and analyzed using grounded theory. Results revealed that R/S issues are often covered during the psychosocial portions of the curriculum through writing assignments, in class exercises, and role plays. Almost all participating programs include information on pastoral care services, but have little to no training about specific R/S beliefs or the use of spiritual surveys. While participating program directors emphasized that it is critical for students to be prepared to hold conversations about patients' R/S beliefs, the strategies used to prepare students are inconsistent and often not evaluated. We provide suggestions for enriching the R/S training in genetic counseling graduate programs in order to prepare students to facilitate discussions around patients' religion and/or spirituality in genetic counseling sessions.

An analysis of growth in the genetic counseling profession 2009 to 2019.

e13526 Background: Genetic counselors (GCs) are health care professionals who provide support to patients and physicians navigating the rapidly changing landscape of genetic testing and the genetic underpinnings of disease. Increased demand for genetic counseling services prompted an analysis of changes in the workforce over the last decade. Methods: To quantify the growth in the GC profession in the U.S and Canada in the last decade, we acquired data from the American Board of Genetic Counseling, National Society of Genetic Counselors, Canadian Association of Genetic Counselors, Accreditation Council for Genetic Counseling and Association of Genetic Counseling Program Directors. Results: Between 2009 and 2019, the workforce more than doubled, growing from 2,205 ABGC-certified GCs to 5,172. In Canada, the number of CAGC-certified GCs has grown from 211 in 2009 to 327 in 2019. Growth is striking in cancer genetic counseling; the proportion of GCs providing direct patient care in North America who report cancer as a primary specialty has increased from 25% in 2008 to 50% in 2019. Similar growth has been seen in training opportunities for GCs. The number of accredited graduate programs has increased from 33 in 2009 to 51 in 2019, with several more in development. Combined, these programs had 464 training slots in 2019, up from 223 in 2009. In 2019, 1569 applicants registered for the applicant match for training. Training opportunities and clinical genetic counselors are concentrated in large metropolitan areas, with over half of GCs working in 28 metro regions. GC services in rural areas are increasingly provided remotely via telemedicine, with 59% of GCs in direct patient care in 2018 reporting providing services by phone and 19% using web or video services to deliver care. In cancer genetics, about 50% of GCs nationwide reported in 2018 their 3rd next available appointment for new patients was within 14 days. Conclusions: The past decade has seen significant growth in the numbers of GCs and more patients have access to GCs than a decade ago. Reimbursement for services remains a significant barrier to access. Further research is warranted to understand additional political, administrative and logistical facilitators and barriers to providing care to all who need genetics services.

Rare β-Globin Gene Mutations including a de novo Mutation of Hemoglobin Hammersmith in Southern Thailand

Objective: The aim of this study was to characterize unknown β-globin gene mutations in individuals who attended Songklanagarind Hospital for thalassemia screening and genetic counseling.Material and Methods: β-thalassemia mutations in individuals with hemoglobin (Hb) A2 levels &gt;3.5% originating from various provinces in southern Thailand were characterized by reverse dot blot hybridization (RDB) and multiplex gappolymerase chain reaction using a panel of 30 allele-specific probes for point mutations and 6 sets of specific primers for large deletions. Mutations which could not be identified by these two methods were further analyzed by direct deoxyribonucleic acid (DNA) sequencing.Results: Nineteen subjects found to have uncharacterized β-globin gene mutations were analyzed by direct DNA sequencing. Nine different rare mutations were identified, four of which have not been to date described in Thailand: -30 (T&gt;C), codon 5 (-CT), Hb Monroe (codon 30, G&gt;C) and Hb Hammersmith (codon 42, T&gt;C). An Hb Hammersmith mutation detected in one subject appeared to be a spontaneous mutation, unrelated to family history. The other five mutations have been reported previously within Thailand, but here they were identified in the southern part of Thailand for the first time: -31 (A&gt;G), codon 15 (-T), codon 35 (C&gt;A), codon 95 (+A) and Hb Dhonburi (codon 126, T&gt;G). The presence of the mutations was confirmed by RDB.Conclusion: In addition to the already reported β-globin gene mutations, 9 other different types of mutations were identified. This information should be useful for planning genetic counseling and prenatal diagnosis programs for prevention and control of thalassemia diseases.

Efforts of diversity and inclusion, cultural competency, and equity in the genetic counseling profession: A snapshot and reflection.

Like its peer health professions, the genetic counseling field recognizes the need for and value of diversity, inclusion, cultural competency, and equity (DICE). However, despite decades of diversity initiatives, minimal gains in the percentage of genetic counselors with minority identities have been realized. In order to gather information about DICE efforts, two surveys were created and distributed to genetic service providers, trainees, and genetic counseling program faculty yielding a total of 76 responses. Additionally, a literature scan was performed to gain an understanding of past and ongoing DICE efforts in the career. Three emerging domains resulted from quantitative and qualitative analysis of the submitted data: (1) Categories of DICE Projects, (2) Parties Carrying Out DICE Projects, and (3) What is Missing? Overall, inclusion efforts are notably underrepresented among DICE projects. Also, DICE efforts are generally under-supported, unfunded, and under-recognized as work-related responsibilities. To enhance DICE within the genetic counseling profession, we recommend developing additional research and projects focused on career inclusion and equity, implementing policies requiring DICE training for leaders within the field, encouraging project evaluation and outcomes dissemination, and creating a well-maintained web-based centralized repository for DICE resources.