Genetic Counseling Program Research Articles

Professional Issues of International Genetic Counseling Students Educated in the United States.

International students have unique personal and academic challenges during their training in genetic counseling programs across the United States (U.S.). Previous research has explored their motivations and experiences; however, there is scant research on how their international status affects the post-graduate experience. The current study used semi-structured phone interviews to explore the professional issues that international students face throughout their educational and professional careers. Twenty-six participants were interviewed including international genetic counseling students in their second years of training and international genetic counselors who graduated from a U.S.-accredited program. Participants included six, second-year students, twelve genetic counselors employed in the U.S., six employed in Canada, and one employed in the United Kingdom (U.K.). Qualitative analysis of interviews captured the common experiences and challenges international students faced during their training and post-graduation. Participants stated that they applied to programs in the U.S. because there is wide transferability of qualifications across the world, and there is limited or no opportunities for masters level genetic counseling training in their home country. Most participants who had applied for jobs in the U.S. experienced difficulties regarding unfamiliarity of human resources (HR) departments and Border Control Officers with international genetic counselors (GCs) and their visa requirements. The results suggest that currently there are insufficient job resources tailored to international genetic counselors, and an inadequate availability of peer support. The results also speak to the need to develop resources for prospective international students and for international GCs seeking jobs, and establishment of a peer support network. These resources may also provide assistance to genetic counseling training programs and employers to address the challenges faced by international genetic counselors.

Abstract P2-09-21: HBOC genetic counseling: A genetic counselor-physician partnership model

Abstract Background: In 2003, the American Society of Clinical Oncology (ASCO) issued a policy statement that addressed the oncologist's role in integrating cancer genetic risk assessment and management into clinical practice. ASCO supports access to genetic counseling for patients offered genetic testing and after results disclosure. In 2014, Integrated Genetics (IG) began offering genetic counseling in partnership with OBGYNs and oncologists whose patients have a personal or family history of breast or ovarian cancer. The goal of the program was to provide an easily accessible and comprehensive genetic counseling service for Hereditary Breast and Ovarian Cancer (HBOC) to meet the needs of patients and to support clinicians who currently provide pre- and post-test counseling. Methods: In this study we describe IG's HBOC genetic counseling service and in a retrospective analysis, describe the characteristics of patients referred to the program in 2014. Clinicians were provided a toll free number for patients to call to schedule a genetic counseling session. The scheduling staff facilitated medical record requests and emailed a family history questionnaire. In person or telegenetic counseling (via WebEx) was offered. Telegenetic counseling allowed the patient and genetic counselor to see one another via webcam and view counseling visual aids and relevant medical records. Pedigree analysis and cancer genetic risk assessment were performed and genetic testing options discussed based on National Comprehensive Cancer Network (NCCN) testing criteria. Information discussed at the session, including patient decisions about testing, was documented for the referring physician and patient in the Genetic Counseling Consultation Report. The physician ordered testing and managed patient screening and surveillance. Results: During 2014, 247 counseling sessions were provided to patients from 23 states. All patients had a personal or family history of breast or ovarian cancer and the average age of patients was 44 years (range: 16-85). Sixty four percent (64%) of sessions were done via WebEx and 36% in person. Of the 247 sessions, 198 (80.2%) were for pre-test genetic counseling; of those, 173 (87.4%) met NCCN HBOC genetic testing criteria and genetic testing for BRCA1/2 was offered. Of this group, 70.52% desired testing, 27.75% declined and 1.73% were undecided. The remaining sessions (n=49) included post-test counseling for pathogenic mutations or variants of unknown significance (n=39), and patients who had accepted testing but whose results were pending (n=10). Conclusions: The IG HBOC genetic counseling program extended comprehensive genetic counseling to patients at increased risk for BRCA1/2 mutations who might not otherwise have access to this service. Physicians appropriately selected patients for referral (87% met NCCN testing criteria). The genetic counselors provided cancer genetic risk assessment, time-intensive patient education to facilitate informed decision making, and counseling about the implications of results, including the complexities of variants of unknown significance. This partnership model allowed physicians to retain patient care oversight, including management of screening and surveillance, while leveraging genetic counselor expertise. Citation Format: Oliver JB, Cronister A. HBOC genetic counseling: A genetic counselor-physician partnership model. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr P2-09-21.

Developing a Model of Advanced Training to Promote Career Advancement for Certified Genetic Counselors: An Investigation of Expanded Skills, Advanced Training Paths, and Professional Opportunities.

There are currently multiple paths through which genetic counselors can acquire advanced knowledge and skills. However, outside of continuing education opportunities, there are few formal training programs designed specifically for the advanced training of genetic counselors. In the genetic counseling profession, there is currently considerable debate about the paths that should be available to attain advanced skills, as well as the skills that might be needed for practice in the future. The Association of Genetic Counseling Program Directors (AGCPD) convened a national committee, the Committee on Advanced Training for Certified Genetic Counselors (CATCGC), to investigate varied paths to post-master's training and career development. The committee began its work by developing three related grids that view career advancement from the viewpoints of the skills needed to advance (skills), ways to obtain these skills (paths), and existing genetic counselor positions that offer career change or advancement (positions). Here we describe previous work related to genetic counselor career advancement, the charge of the CATCGC, our preliminary work in developing a model through which to view genetic counselor advanced training and career advancement opportunities, and our next steps in further developing and disseminating the model.

Expanding the genetic counseling workforce: program directors' views on increasing the size of genetic counseling graduate programs.

Although there is an anticipated need for more genetic counselors, little is known about limitations at the graduate training level. We evaluated opportunities for growth of the genetic counseling (GC) workforce by exploring program directors' perspectives on increasing number of graduate trainees. Thirty US-based GC program directors (PDs) were recruited through the Association of Genetic Counseling Program Directors' listserv. Online surveys and semistructured phone interviews were used to explore factors impacting the expansion of the GC workforce. Twenty-five PDs completed the survey; 18 interviews were conducted. Seventy-three percent said they believe that the workforce is growing too slowly and the number of graduates should increase. Attitudes were mixed regarding whether the job market should be the main factor driving workforce expansion. Thematic analysis of transcripts identified barriers to program expansion in six categories: funding, accreditation requirements, clinical sites, faculty availability, applicant pool, and physical space. General consensus among participants indicates the importance of increasing the capacity of the GC workforce pipeline. Addressing funding issues, examining current accreditation requirements, and reevaluating current education models may be effective strategies to expanding GC program size. Future research on increasing the number of GC programs and a needs assessment for GC services are suggested.Genet Med 18 8, 842-849.

Development, Experience, and Expression of Meaning in Genetic Counselors' Lives: an Exploratory Analysis.

Genetic counselors routinely engage with patients and families who grapple with questions of meaning while making decisions about genetic risk. Research and theory demonstrate genetic counselors gain important personal insights through their work and develop professionally from self-reflective practice regarding their beliefs and values. Data are lacking, however, about the nature of the meaning genetic counselors bring to their profession and how they directly experience and/or navigate issues of meaning within clinical practice over time. Accordingly, a national sample (N = 298) of practicing genetic counselors completed a brief survey assessing their demographic characteristics and willingness to participate in a semi-structured telephone interview exploring their views on meaning as they relate to their clinical work and professional development. Sixty-eight individuals of varied experience levels were interviewed about: 1) how they define a meaningful life for themselves; 2) lifetime sources of influence on their sense of meaning; 3) how they experience meaning within both personal and professional contexts; 4) work-related contexts that reaffirm and challenge their sense of meaning; and 5) how their sense of meaning has changed over time. Twenty-five interviews were analyzed using Consensual Qualitative Research methods, at which point, data saturation was reached. Five themes, 32 domains, and 29 categories were extracted. Common findings include: importance of satisfying relationships; helping others; personal fulfillment; personal and patient experiences of illness and loss; religious and/or spiritual foundations; value conflicts; competing obligations; challenges to meaning; development of empathy; resiliency; and increased humility. Results suggest the importance of professional venues for discussions of meaning (e.g., genetic counseling program curricula, continuing education, and peer supervision/consultation). Additional findings, practice implications, and research recommendations are presented.

AB014. Expanding newborn screening and the initiation of regional follow-up in the Philippines

Background Newborn bloodspot screening (NBS) is a well-recognized public health prevention program aimed at identifying newborns that are affected by certain genetic/metabolic/infectious conditions. Early identification of these conditions is particularly crucial since timely intervention can lead to significant reduction in morbidity, mortality, and associated disabilities in affected newborns. Newborn screening systems have existed in many developed countries for over 40 years, but they are still in development in low-income settings. While developing programs are focusing on 1 or 2 prominent congenital conditions, developed programs now screen for more than 50 different conditions. Newborn screening in the Philippines began as a small pilot program in Manila in 1996 and became a nationwide program institutionalized in a 2004 law that requires that NBS to be offered to all newborns, supported by national health insurance. While the screening mandate includes 6 conditions, recent expansion has allowed for inclusion of over 20 conditions at an additional charge. To facilitate clinical follow-up, a network of regional follow-up centers has been implemented using a team approach. A recently implemented genetic counseling program is providing much needed trained personnel to assist with counseling activities across the country

Consideraciones éticas en el diagnóstico presintomático de ataxias espinocerebelosas autosómico dominantes

IntroductionInformation on achieving presymptomatic diagnosis of spinocerebellar ataxia (SCA) is limited. The advent of molecular diagnosis makes it possible to identify the carriers of different diseases and has also introduced the prospect of detecting diseases even before their onset. This has drawn attention to the ethical implications that must be considered in these subjects with a view to preserving their physical and psychological well-being. DevelopmentSCA is composed of a group of neurodegenerative disorders with autosomal dominant inheritance. Only a few publications have described the genetic counselling processes and guidelines to be followed during the process of presymptomatic diagnosis (PSD). The size of the multidisciplinary teams, their areas of expertise, and the number of counselling sessions are different for each of the studies analysed here. However, the basis of presymptomatic diagnosis originates in common guidelines to which members of our team have contributed recently. ConclusionPresymptomatic diagnosis should be performed according to guidelines that safeguard the subjects’ welfare. The diagnostic process is only recommended for patients over 18 years old with symptoms suggesting SCA, and a minimum risk of 50%. Genetic counselling programmes must be available in all centres that offer presymptomatic diagnosis of SCA.

Defining Our Clinical Practice: The Identification of Genetic Counseling Outcomes Utilizing the Reciprocal Engagement Model.

The need for evidence-based medicine, including comparative effectiveness studies and patient-centered outcomes research, has become a major healthcare focus. To date, a comprehensive list of genetic counseling outcomes, as espoused by genetic counselors, has not been established and thus, identification of outcomes unique to genetic counseling services has become a priority for the National Society of Genetic Counselors (NSGC). The purpose of this study was to take a critical first step at identifying a more comprehensive list of genetic counseling outcomes. This paper describes the results of a focus group study using the Reciprocal-Engagement Model (REM) as a framework to characterize patient-centered outcomes of genetic counseling clinical practice. Five focus groups were conducted with 27 peer nominated participants who were clinical genetic counselors, genetic counseling program directors, and/or outcomes researchers in genetic counseling. Members of each focus group were asked to identify genetic counseling outcomes for four to five of the 17 goals of the REM. A theory-driven, thematic analysis of focus group data yielded 194 genetic counseling outcomes across the 17 goals. Participants noted some concerns about how genetic counseling outcomes will be measured and evaluated given varying stakeholders and the long-term nature of genetic concerns. The present results provide a list of outcomes for use in future genetic counseling outcomes research and for empirically-supported clinical interventions.

Epidemioclinical Feature of Early-Onset Colorectal Cancer at-Risk for Lynch Syndrome in Central Iran

Colorectal cancer (CRC) is becoming one of the most complicated challenges of human health, particularly in developing countries like Iran. In this paper, we try to characterize CRC cases diagnosed < age 50 at-risk for Lynch syndrome within central Iran. We designed a descriptive retrospective study to screen all registered CRC patients within 2000-2013 in Poursina Hakim Research Center (PHRC), a referral gastroenterology clinic in central Iran, based on being early-onset (age at diagnosis ≤50 years) and Amsterdam II criteria. We calculated frequencies and percentages by SPSS 19 software to describe clinical and family history characteristics of patients with early-onset CRC. Overall 1,659 CRC patients were included in our study of which 413 (24.9%) were ≤50 years at diagnosis. Of 219/413 successful calls 67 persons (30.6%) were reported deceased. Family history was positive for 72/219 probands (32.9%) and 53 families (24.2%) were identified as familial colorectal cancer (FCC), with a history of at-least three affected members with any type of cancer in the family, of which 85% fulfilled the Amsterdam II Criteria as hereditary non-polyposis colorectal cancer (HNPCC) families (45/219 or 20.5%). Finally, 14 families were excluded due to proband tumor tissues being unavailable or unwillingness for incorporation. The most common HNPCC-associated extracolonic- cancer among both males and females of the families was stomach, at respectively 31.8 and 32.7 percent. The most common tumor locations among the 31 probands were rectum (32.3%), sigmoid (29.0%), and ascending colon (12.9%). Given the high prevalence of FCC (~1/4 of early-onset Iranian CRC patients), it is necessary to establish a comprehensive cancer genetic counseling and systematic screening program for early detection and to improve cancer prognosis among high risk families.

Elevated Hb A2 Levels in a Patient with a Compound Heterozygosity for the (β+) −31 (A > G) and (β0) Codon 17 (A > T) Mutations Together with a Single α-Globin Gene

We report the molecular and hematological feature of a Thai woman who had clinical diagnosis of β-thalassemia intermedia (β-TI). Hemoglobin (Hb) high performance liquid chromatography (HPLC) analysis identified Hb A (64.4%), Hb F (12.3%) and Hb A2/E (15.9%) with small peaks of Hb Bart’s (γ4) and Hb H (β4). She was initially diagnosed as EA Bart’s disease, which occurs from combination of Hb H disease and Hb E (HBB: c.79G > A) trait. However, the Hb analysis using capillary electrophoresis (CE) demonstrated no Hb E, 68.5% Hb A, 15.5% Hb F and 16.0% Hb A2. DNA analysis showed a compound heterozygosity for (β+) −31 (A > G) (HBB: c.-81A > G) and (β0) codon 17 (A > T) (HBB: c.52A > T) mutations and deletional Hb H (– –SEA/–α3.7). Thus, she was finally diagnosed with a combination of Hb H disease and compound heterozygosity of β+/β0-thalassemia (β+/β0-thal). The β-globin mutations could affect not only hematological parameters but also elevate the Hb A2 levels. These effects could not be ameliorated by the coinheritance of Hb H disease. Therefore, a better understanding of the effects of this combination on hematological analysis data will be useful for providing accurate diagnosis, genetic counseling, prevention and control programs of β-thalassemia major (β-TM).

Report on an Investigation into an Entry Level Clinical Doctorate for the Genetic Counseling Profession and a Survey of the Association of Genetic Counseling Program Directors.

The master's degree is the required entry-level degree for the genetic counseling profession in the US and Canada. In 2012 the Association of Genetic Counseling Program Directors (AGCPD) passed resolutions supporting retention of the master's as the entry-level and terminal degree and opposing introduction of an entry-level clinical doctorate (CD) degree. An AGCPD workgroup surveyed directors of all 34 accredited training programs with the objective of providing the Genetic Counseling Advanced Degrees Task Force (GCADTF) with information regarding potential challenges if master's programs were required to transition to an entry-level CD. Program demographics, projected ability to transition to an entry-level CD, factors influencing ability to transition, and potential effects of transition on programs, students and the genetic counseling workforce were characterized. Two programs would definitely be able to transition, four programs would close, thirteen programs would be at risk to close and fourteen programs would probably be able to transition with varying degrees of difficulty. The most frequently cited limiting factors were economic, stress on clinical sites, and administrative approval of a new degree/program. Student enrollment under an entry-level CD model was projected to decrease by 26.2%, negatively impacting the workforce pipeline. The results further illuminate and justify AGCPD's position to maintain the master's as the entry-level degree.

Detection of Hb Constant Spring (HBA2: c.427T>C) Heterozygotes in Combination with β-Thalassemia or Hb E Trait by Capillary Electrophoresis

Hb Constant Spring (Hb CS; HBA2: c.427T>C) is often missed by routine laboratory testing as its mRNA as well as gene product are unstable and presented at a low level in peripheral blood. This study aimed to analyze the efficacy of capillary electrophoresis (CE) for detecting and quantifying of Hb CS in β-thalassemia (β-thal) trait or Hb E (HBB: c.79G>A) trait samples with reduced β-globin chain expression. Thalassemia diagnostic data were reviewed in 2524 blood samples that were submitted to the laboratory of the Associated Medical Sciences Clinical Service Center, Chiang Mai, Thailand for hemoglobinopathy and thalassemia diagnosis. DNA analysis for Hb CS was performed in 322 β-thal trait and 397 Hb E trait samples using the amplification refractory mutation system (ARMS). The CE electropherogram of Hb CS at zone 2 was observed in all five samples with β-thal trait and nine samples with Hb E trait with levels varying from 0.1–2.8 and 0.1–2.3%, respectively. Thus, the CE method proved useful for screening of Hb CS in samples with β-thal trait or Hb E trait, which is essential for providing accurate diagnosis, genetic counseling, prevention and control programs of Hb H-CS disease.

Respecting autonomous decision making among Filipinos: a re-emphasis in genetic counseling.

Family cohesiveness provides a unique cultural influence in the observance and expression of autonomy in terms of Filipino patients' decision making. With genetic counseling yet in its dawning practice in the Philippines, healthcare professionals (i.e., geneticists, practitioners) practicing genetic counseling and students in the pioneering genetic counseling program face the challenge of how to provide culturally appropriate measures in respecting Filipinos' autonomy. There is much deliberation with respect to identifying autonomous decision making among Filipino patients as counselees in genetic counseling. Cultural values influence how autonomy and bioethical principles are upheld. In a culturally-appropriate manner of identifying who makes health care and genetic counseling decisions, the sole focus on an individualistic perspective may be too western-based and may render genetic counseling less effective. The uniquely important cultural feature of family cohesiveness necessitates its incorporation into the practice of genetic counseling in the Philippines.

Genetic counseling for individuals with hemoglobin disorders and for their relatives: a systematic literature review

To identify genetic counseling programs that do not encourage therapeutic abortion for individuals with hemoglobin disorders and/or for their relatives. Systematic literature review of articles published from 2001 to 2012 that are located in the PubMed, LILACS, SciELO and SCOPUS databases using keywords in Portuguese, English and Spanish and that met the inclusion and exclusion criteria described on a standardized form. A total of 409 articles were located, but only eight (1.9%) were selected for analysis. Although seldom mentioned in the literature, educational/preventive programs targeting hemoglobinopathies are feasible and allow the affected individuals to acquire knowledge on the consequences of this condition and their odds of transmitting it.

Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population.

The aim of the present study was to assess the risk of major anomalies in the offspring of consanguineous couples, including data on the prenatal situation. Over 20 years (1993-2012), 35,391 fetuses were examined by prenatal sonography. In 675 cases (1.9%), parents were consanguineous, with 307 couples (45.5%) related as first cousins, 368 couples (54.5%) beyond first cousins. Detailed information was retrieved on 31,710 (89.6%) fetuses, (consanguineous 568: 1.8%). Overall prevalence of major anomalies among fetuses with non-consanguineous parents was 2.9% (consanguineous, 10.9%; first cousins, 12.4%; beyond first cousins, 6.5%). Adjusting the overall numbers for cases having been referred because of a previous index case, the prevalences were 2.8% (non-consanguineous) and 6.1% (consanguineous) (first cousin, 8.5%; beyond first cousin, 3.9%). Further adjustment for differential rates of trisomic pregnancies indicated 2.0%/5.9% congenital anomalies (non-consanguineous/consanguineous groups), that is, a consanguinity-associated excess of 3.9%, 6.1% in first cousin progeny and 1.9% beyond first cousin. The prevalence of major fetal anomalies associated with consanguinity is higher than in evaluations based only on postnatal life. It is important that this information is made available in genetic counselling programmes, especially in multi-ethnic and multi-religious communities, to enable couples to make informed decisions.

Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: Implications for genetic counseling

Cyclin-dependent kinase inhibitor 2A (CDKN2A) is the major high-risk susceptibility gene for melanoma. We sought to evaluate the effect of CDKN2A mutations in Spanish patients with a high risk of developing melanoma and the association with clinical and family history features. A cross-sectional study design was used to analyze the CDKN2A impact in 702 Spanish patients with a high risk of developing melanoma. The CDKN2A mutation prevalence was 8.5% in patients with sporadic multiple primary melanoma and 14.1% in familial melanoma. Number of cases in the family, number of primary melanomas, and age of onset were associated with the presence of CDKN2A mutation. Having a CDKN2A mutation in the family increased the prevalence of other cancers (prevalence ratio [PR] 2.99, P=.012) and prevalence of pancreatic (PR 2.97, P=.006), lung (PR 3.04, P<.001), and breast (PR 2.19, P=.018) cancers but not nephrourologic or colon cancer. Smoking status was not assessed in the individuals with lung cancer. Melanoma-prone families with mutations in CDKN2A have an increased prevalence of a broad spectrum of cancers including lung, pancreatic, and breast cancer. This information should be included in genetic counseling and cancer prevention programs for CDKN2A mutation carriers.

Assessing Deaf Awareness Training: Knowledge and Attitudes of Recent Genetic Counseling Graduates

Research suggests that when healthcare providers lack cultural competence, minority groups, including the Deaf community, are adversely affected. Although most genetic counseling programs incorporate cultural competency training into their curricula, the extent and impact of Deaf awareness training is unknown. The purpose of this study is to assess Deaf awareness training of recent graduates and its impact on knowledge of deafness and Deaf culture, and attitudes toward deaf people. Genetic counselors who graduated within the past 5years were invited to participate in an anonymous, online survey. Of the 135 respondents, 26% reported no Deaf awareness training and 51% reported limited training (1-2h) conducted primarily by program instructors. Nearly one-third felt their Deaf awareness training was insufficient. Respondents lacked knowledge regarding effects of cochlear implants on residual hearing, communication between deaf children and hearing parents, and working with sign language interpreters. However, scores on knowledge of deafness and Deaf culture items and scores on attitudes toward deaf people scale did not differ significantly between respondents who had Deaf awareness training and those who did not. These findings suggest that genetic counseling students may not receive adequate Deaf awareness training. Future efforts should focus on increasing Deaf awareness in genetic counseling students, and investigating whether this change improves genetic counseling experiences for Deaf individuals.

Disability training in the genetic counseling curricula: bridging the gap between genetic counselors and the disability community.

Over the past two decades, disability activists, ethicists, and genetic counselors have examined the moral complexities inherent in prenatal genetic counseling and considered whether and in what ways genetic counseling may negatively affect individuals in the disability community. Many have expressed concerns about defining disability in the context of prenatal decision-making, as the definition presented may influence prenatal choices. In the past few years, publications have begun to explore the responsibility of counselors in presenting a balanced view of disability and have questioned the preparedness of counselors for this duty. Currently, the Accreditation Council for Genetic Counseling (ACGC) only minimally includes disability training in their competencies for genetic counselors, and in their accreditation requirements for training programs. In an attempt to describe current practice, this article details two studies that assess disability training in ABGC-accredited genetic counseling programs. Results from these studies demonstrate that experience with disability is not required by the majority of programs prior to matriculation. Though most program directors agree on the importance of including disability training in the curriculum, there is wide variability in the amount and types of training students receive. Hours dedicated to disability exposure among programs ranged from 10 to 600 hours. Eighty-five percent of program directors surveyed agree that skills for addressing disability should be added to the core competencies. Establishing a set of disability competencies would help to ensure that all graduates have the skills necessary to provide patients with an accurate understanding of disability that facilitates informed decision-making.

The Incorporation of Predictive Genomic Testing into Genetic Counseling Programs

This study explored whether genetic counseling programs are incorporating instruction about the applications and techniques of predictive genomic testing (PGT) based on student recollection, and whether this is perceived as adequate by those students. For the purpose of this study, PGT was defined as the use of genome-based testing to assess a person's risk, or susceptibility, of developing a disorder with either a known or suspected genetic component. Surveys from 114 graduates were analyzed. The majority of respondents indicated that PGT was covered in their curriculum including methodology, information generated, benefits, risks, limitations, and impact on the field of genetic counseling. A statistically significant increase in incorporating information about PGT as a whole from 2008 to 2011 was also reported. The majority of respondents reported that coverage of PGT prepared them for the American Board of Genetic Counseling (ABGC) board exam (80.6 %), to interpret PGT test results (60.2 %) and to identify clinical situations warranting testing (53.1 %). Although the majority of respondents indicated learning about a wide variety of aspects surrounding PGT, many recent graduates indicated their training was less likely to cover aspects essential for the clinical application of PGT. Therefore, genetic counseling programs should place a greater emphasis on these skills, and the development of continuing education opportunities aimed at increasing genetic counselors abilities to interpret and discuss PGT tests and identify clinical situations warranting such testing may be helpful.

Genetic Counseling Graduate Student Debt: Impact on Program, Career and Life Choices

The cost of education is rising, increasing student financial aid and debt for students pursuing higher education. A few studies have assessed the impact of student debt in medicine, physical therapy and social work, but little is known about the impact of student debt on genetic counseling students and graduates. To address this gap in knowledge, a web-based study of 408 recent alumni of genetic counseling programs in North America was conducted to assess the impact of student debt on program, career and life choices. Over half (63 %; n = 256/408) of the participants reported that loans were extremely important in their ability to attend their training program, with most using subsidized loans no longer available to current graduate students. While participants were generally satisfied with their genetic counseling education, 83 % (n = 282/342) of participants with student debt reported feeling burdened by their debt, which had a median of $40,000-$50,000. This debt is relatively close to the median starting salary reported by survey participants ($45,000-$50,000), breaching the "20-10 rule" that states student debt should not exceed 20 % of annual net income. In response to this critical issue, we propose recommendations for the genetic counseling field that may help alleviate student debt impact and burden.