Traditionally, the biotechnology and pharmaceutical industry (BPI) has focused drug development at the mass-market level targeting common medical issues. However, a recent trend is the development of therapies for orphan or rare disorders, including many genetic disorders. Developing treatments for genetic disorders requires an understanding of the needs of the community and translating genomic information to clinical and non-clinical audiences. The core skills of genetic counselors (GCs) include a deep knowledge of genetics and ability to communicate complex information to a broad audience, making GCs a choice fit for this shift in drug development. To date there is limited data defining the roles GCs hold within this industry. This exploratory study aimed to define the roles and motivation of GCs working in BPI, assess job satisfaction, and identify translatable skills and current gaps in GC training programs. The authors surveyed 26 GCs working in BPI in the United States; 79 % work for companies focused on rare disorders. GC positions in BPI are growing, with 57 % of respondents being the first GC in their role. GCs in BPI continue to utilize core genetic counseling competencies, though 72 % felt their training did not fully prepare them for BPI. These data suggest opportunities for exposure to BPI in GC training to better prepare future generations of GCs for these career opportunities. GC satisfaction was high in BPI, notably in areas traditionally reported as less satisfying on the National Society for Genetic Counselors Professional Status Survey: salary and advancement opportunities. BPI's growing interest in rare disorders represents a career opportunity for GCs, addressing both historic areas of dissatisfaction for GCs and BPI's genomic communication needs.
Abstract The BUN and FASTER studies, two prospective multicenter trials in the United States, validated the accuracy and detection rates of first and second trimester screening previously reported abroad. These studies, coupled with the 2007 release of the American College of Obstetricians and Gynecologists (ACOG) Practice Bulletin that endorsed first trimester screening as an alternative to traditional second trimester multiple marker screening, led to an explosion of screening options available to pregnant women. ACOG also recommended that invasive diagnostic testing for chromosome aneuploidy be made available to all women regardless of maternal age. More recently, another option known as Non‐invasive Prenatal Testing (NIPT) became available to screen for chromosome aneuploidy. While screening and testing options may be limited due to a variety of factors, healthcare providers need to be aware of the options in their area in order to provide their patients with accurate and reliable information. If not presented clearly, patients may feel overwhelmed at the number of choices available. The following guideline includes recommendations for healthcare providers regarding which screening or diagnostic test should be offered based on availability, insurance coverage, and timing of a patient's entry into prenatal care, as well as a triage assessment so that a general process can be adapted to unique situations.
The process of identifying and responding to patients' social, emotional, and psychological concerns is a required skill for training and practicing genetic counselors. Patients' health outcomes are improved when genetic counselors attend to these "psychosocial" concerns. Still, the process of eliciting, assessing, and attending to patients' psychosocial concerns in the genetic counseling setting is not well defined in the literature nor is it performed consistently. Tools that do exist are often questionnaire-based, designed for research use, or occur outside of a genetic counseling appointment. Here we describe the complexities of defining "psychosocial assessment" in genetic counseling, its impact on patient outcomes, and summarize existing tools for psychosocial assessment. We identify a need for evidenced-based, verbally-administered psychosocial assessment tools in genetic counseling and explore the value of adapting an existing tool from primary care (the BATHE method) to genetic counseling. The BATHE method is a semi-structured psychosocial assessment tool that can be performed quickly within a patient appointment to gather context, emotional impact, the patient's primary concern, and coping strategies. Through our professional experiences we believe it is a beneficial psychosocial assessment tool as perceived by both patients and genetic counselors. Further work is needed to determine if the BATHE method could fill a gap in how genetic counselors conduct a psychosocial assessment.
Pharmacogenomics has the potential to inform drug dosing and selection, reduce adverse events, and improve medication efficacy; however, provider knowledge of pharmacogenomic testing varies across provider types and specialties. Given that many actionable pharmacogenomic genes are implicated in cardiovascular medication response variability, this study aimed to evaluate cardiology providers' knowledge and attitudes on implementing clinical pharmacogenomic testing. Sixty-one providers responded to an online survey, including pharmacists (46%), physicians (31%), genetic counselors (15%), and nurses (8%). Most respondents (94%) reported previous genetics education; however, only 52% felt their genetics education prepared them to order a clinical pharmacogenomic test. In addition, most respondents (66%) were familiar with pharmacogenomics, with genetic counselors being most likely to be familiar (p < 0.001). Only 15% of respondents had previously ordered a clinical pharmacogenomic test and a total of 36% indicated they are likely to order a pharmacogenomic test in the future; however, the vast majority of respondents (89%) were interested in pharmacogenomic testing being incorporated into diagnostic cardiovascular genetic tests. Moreover, 84% of providers preferred pharmacogenomic panel testing compared to 16% who preferred single gene testing. Half of the providers reported being comfortable discussing pharmacogenomic results with their patients, but the majority (60%) expressed discomfort with the logistics of test ordering. Reported barriers to implementation included uncertainty about the clinical utility and difficulty choosing an appropriate test. Taken together, cardiology providers have moderate familiarity with pharmacogenomics and limited experience with test ordering; however, they are interested in incorporating pharmacogenomics into diagnostic genetic tests and ordering pharmacogenomic panels.
This chapter defines and describes the process of risk assessment and communication in genetic counseling practice. It identifies and evaluates variables and modifiers that impact understanding of risk and develops skills to support various strategies in risk communication. Prior to communicating risk, the genetic counselor must first arrive at an accurate risk assessment for the patient. More traditional modes of Mendelian inheritance provide an opportunity for the genetic counselor to use the properties of segregation to determine risk. Empiric risk estimates are most often applied to multifactorial traits such as cleft lip and palate and pyloric stenosis. In addition, genetic counselors specializing in cancer use modelsto estimate the likelihood of finding a pathogenic variant. Bayes theorem may cause angst for the genetic counselor when considering the theorem with the use of the mutation rate in its most drawn out form. However, applied practically in clinic, Bayes may be useful daily in many genetic settings.
It is becoming increasingly common for people to openly identify as transgender, yet there is little research in the field of genetic counseling regarding this community's unique medical needs. Transgender patients are likely to present with issues that cross genetics and gender-related care in a cancer genetic counseling session, and empiric data about these differences is needed to provide adequate care. In order to investigate what specific health topics and concerns are addressed in cancer genetic counseling sessions with transgender patients, 21 cancer genetic counselors who have seen transgender patients were interviewed. Through inductive analysis, six themes emerged: (1) documentation systems are not inclusive or clear; (2) genetic counselors feel unprepared for these sessions; (3) gender affirming hormones impact risk assessment; (4) genetic testing affects gender affirming surgical decisions; (5) transgender patients present at younger ages to clinic; and (6) pathogenic variants allow for insurance coverage for gender affirming surgeries. This study's findings point to opportunities for the field of genetic counseling to enhance services for transgender patients by reporting distinctive situations that may arise in clinic with these patients and providing training recommendations for genetic counselors.
In North America, genetic counseling is an allied health profession where entry level practitioners currently must hold a master's degree earned from a graduate program accredited by the American Board of Genetic Counseling. This is one of many health care professions that could transition to an entry level clinical doctorate degree. This study explored the attitudes of genetic counseling training program directors toward such a transition. Thirty-one North American program directors were invited to complete an online survey and a follow-up telephone interview. Twenty-one program directors completed the survey and ten directors also completed a follow up phone interview. There was disagreement among the respondents on the issue of transitioning to a clinical doctorate degree (nine in favor, six against and six undecided). Respondents disagreed about whether the transition would lead to higher salaries (six yes, eight no, and seven unsure) or increased professional recognition (eight yes, eight no, and four unsure). Approximately half (n = 10) of directors were not sure if the transition to a clinical doctorate would help or hurt minority recruitment; six thought it would help and four thought it would hurt. However, the majority (n = 13) thought a clinical doctorate would help genetic counselors to obtain faculty positions. If the field transitions to a clinical doctorate, 11 of the directors thought their program would convert, seven were unsure and one thought their program would shut down. Themes identified in interview data included 1) implications for the profession 2) institution-specific considerations and 3) perception of the unknown. Opinions are quite varied at this time regarding the possible transition to the clinical doctorate among genetic counseling training program directors.
Abstract In‐person genetic counseling clinics in rural areas are likely to improve access to genetic counseling in underserved regions, but studies have not previously examined how these clinics function or described the experience of practicing in a rural setting. The present mixed‐methods study explored the professional experiences of clinical genetic counselors who practice in rural areas, including the benefits and challenges of practicing in these settings and the counselors’ motivations for doing so. The authors surveyed 20 genetic counselors who self‐reported working in rural areas and conducted interviews with six individuals whose workplaces were confirmed as rural per RUCA code. Major obstacles to the provision of genetics services in rural areas included travel distance and low referral rates due to lack of awareness or skepticism. Facilitating factors included relying on resources such as professional networks and prioritizing outreach and education. Participants reported high professional satisfaction and were motivated to work in rural areas by personal experiences and qualities of the job such as being a generalist and having greater professional autonomy. These data demonstrate the feasibility of practicing in rural settings and suggest that in‐person rural genetic counseling clinics may complement other strategies such as alternative service delivery models in increasing access for rural residents.
