Emerging Genetic Counselor Roles within the Biotechnology and Pharmaceutical Industries: as Industry Interest Grows in Rare Genetic Disorders,How are Genetic Counselors Joining the Discussion?

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.     

Reproductive Endocrinologists’ Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of <Emphasis Type="Italic">BRCA1/2</Emphasis> Mutation Carriers

Genetic counselors believe fertility preservation and preimplantation genetic diagnosis (PGD) discussions to be a part of their role when counseling BRCA1/2 mutation-positive patients. This study is the first to explore reproductive endocrinologists’ (REI) practices and attitudes regarding involvement of genetic counselors in the care of BRCA1/2 mutation carriers seeking fertility preservation and PGD. A survey was mailed to 1000 REIs from Reproductive Endocrinology & Infertility (SREI), an American Society for Reproductive Medicine (ASRM) affiliate group. A 14.5 % response rate was achieved; data was analyzed using SPSS software. The majority of participating REIs were found to recommend genetic counseling to cancer patients considering fertility preservation (82 %) and consult with a genetic counselor regarding PGD for hereditary cancer syndromes (92 %). Additionally, REIs consult genetic counselors regarding PGD patient counseling (88 %), genetic testing (78 %), and general genetics questions (66 %). Two areas genetic counselors may further aid REIs are: elicitation of family history, which is useful to determine fertility preservation and PGD intervention timing (32 % of REIs utilize a cancer family history to determine intervention timing); and, interpretation of variants of uncertain significance (VOUS) as cancer panel genetic testing becomes more common (36 % of REIs are unfamiliar with VOUS). Given our findings, the Oncofertility Consortium® created an online resource for genetic counselors focused on fertility preservation education and communication strategies.     

Genetic Counselor Workforce Issues: a Survey of Genetic Counselors Licensed in the State of Indiana

The aims of this study were to document movement of genetic counselors (GCs) out of clinical positions and identify factors that might help employers attract and retain clinical GCs. A confidential on-line survey of GCs ever licensed in the state of Indiana was conducted. Of the 46 respondents, most provide direct patient care (69.6 %), have worked in their current position for 5 years or less (72.1 %), and are experienced genetic counselors, having graduated between 6 and 15 years ago (43.5 %). One-third (32.6 %) reported thinking about leaving their current position at least monthly. GCs were more likely to think about leaving their current position when they provided direct patient care (p = 0.04) and worked in a hospital/clinic setting (p = 0.01). Among the 18 respondents that changed jobs in the past two years, 55.6 % currently work in a laboratory/industry setting and 44.4 % provide direct patient care, compared to 8 % of those in a stable position (N = 25) who work in a laboratory/industry setting (p < 0.01) and 88 % who provide direct patient care (p < 0.01). Genetic counselors who have changed jobs within the past 2 years were more satisfied with the possibility for advancement (p = 0.01), the recognition for work they do (p = 0.03) and feeling value from the organization (p = 0.04) in their current positions than those who have not changed jobs. Salary and flexibility were most often reported as reasons for changing jobs. This is the first documentation of the movement of GCs out of clinical roles into industry positions. This changing landscape may impact the access to clinical services and the training of genetic counseling students. This data will provide employers with data to help attract and retain GCs in clinical roles.     

The Views of Pakistani Doctors Regarding Genetic Counseling Services – Is there a Future?

Pakistan is a densely populated country in South Asia with a high burden of genetic disease. A dearth of medical genetic services exists and master’s level trained genetic counselors (GCs) are currently not a part of the healthcare system. This study is the first to determine the views of Pakistani medical doctors (MDs) towards genetic counseling services in Pakistan, including what manner a master’s level genetic counselor might be incorporated into the healthcare system. Fifty-one MDs practicing in the city of Karachi completed a self-administered survey of twenty questions. Of the 49 respondents who answered a specific question, 100 % (49/49) felt that they would refer at least some, if not all, of their relevant patients to a genetic’s clinic if one existed in Karachi. Overall, the respondents showed a positive attitude towards the provision of genetic counseling services as a part of the healthcare system of Pakistan. Some of the proposed roles identified specifically for GCs included: explaining how Down syndrome occurs (66.1 %), discussing genes associated with breast cancer (77.4 %), and explaining the inheritance pattern of β-thalassemia (65.5 %). In contrast, the review of medical and family history and discussion of medical procedures such as ultrasound and amniocentesis were typically seen as the role of a physician. A majority of the respondents (98 %) were in favor of premarital carrier screening for thalassemia and would refer patients to a GC to describe the importance of carrier screening (84.3 %) and to help explain carrier screening results (94.1 %). Many respondents selected GCs as the ideal provider of education and support for people with inherited conditions (43.8 %), followed by specialist MDs (26 %) and general physicians (22.9 %). Considering the high burden of genetic disease in the country, we encourage the development of genetic counseling services in Pakistan.     

Development of a Streamlined Work Flow for Handling Patients’ Genetic Testing Insurance Authorizations

Obtaining genetic testing insurance authorizations for patients is a complex, time-involved process often requiring genetic counselor (GC) and physician involvement. In an effort to mitigate this complexity and meet the increasing number of genetic testing insurance authorization requests, GCs formed a novel partnership with an industrial engineer (IE) and a patient services associate (PSA) to develop a streamlined work flow. Eight genetics clinics and five specialty clinics at the University of Michigan were surveyed to obtain benchmarking data. Tasks needed for genetic testing insurance authorization were outlined and time-saving work flow changes were introduced including 1) creation of an Excel password-protected shared database between GCs and PSAs, used for initiating insurance authorization requests, tracking and follow-up 2) instituting the PSAs sending GCs a pre-clinic email noting each patients’ genetic testing insurance coverage 3) inclusion of test medical necessity documentation in the clinic visit summary note instead of writing a separate insurance letter and 4) PSAs development of a manual with insurance providers and genetic testing laboratories information. These work flow changes made it more efficient to request and track genetic testing insurance authorizations for patients, enhanced GCs and PSAs communication, and reduced tasks done by clinicians.     

Why Is Cancer Genetic Counseling Underutilized by Women Identified as at Risk for Hereditary Breast Cancer? Patient Perceptions of Barriers Following a Referral Letter

Family history information comprises an important tool in identifying and referring patients at risk for hereditary breast and ovarian cancer (HBOC) to cancer genetic counseling. Despite recommendations and support provided by numerous professional organizations, cancer genetic counseling services are underutilized by atrisk patients. This study aimed to: (1) determine the rate of genetic counseling utilization following a referral letter, (2) characterize factors (barriers and supports) which influenced uptake of services, and (3) identify potential strategies for increasing utilization. This study evaluated the uptake of cancer genetic counseling among 603 screening mammography patients identified as having an increased risk for HBOC based on National Comprehensive Cancer Network (NCCN) guidelines. At risk individuals and their primary care providers were mailed a referral letter recommending genetic counseling. Three focus groups (N = 24) were conducted to identify responses to receiving a letter recommending genetic counseling, barriers to seeking genetic counseling, and facilitating factors to utilizing these services. Participant responses were qualitatively analyzed using thematic and cross case analysis. Within one year, 50/603 (8 %) of the identified at-risk women completed a genetic counseling appointment. Participant-perceived barriers which influenced their decision not to seek genetic counseling included lack of relevance and utility, limited knowledge about genetic counseling, concerns about the genetic counseling process, and concerns about cost and insurance coverage. Participant-perceived facilitating factors which would support a decision to seek genetic counseling included greater awareness and education about genetic counseling services when receiving a referral, and improved follow up and guidance from their provider. Findings from this study support the need for patient and primary care provider education, and improved provider-patient communication to increase uptake of genetic counseling services.     

“Be Prepared if I Bring It Up:” Patients’ Perceptions of the Utility of Religious and Spiritual Discussion During Genetic Counseling

As debates continue about the relevance of religion to health care, research is needed to guide decisions about whether genetic counselors (GCs) should routinely address religious and/or spiritual (R/S) issues with their patients. We conducted an online survey to gauge patient perspectives on this issue. Among the 70 respondents, frequencies of closed-ended responses and thematic analyses of open-ended responses revealed multiple patient concerns related to R/S discussions with GCs. Although 60 respondents reported being R/S, only a small minority would want to discuss R/S issues if it meant less time discussing medical information. Most respondents also expressed opinions that: 1) genetic counseling should be about science; 2) GCs are not qualified to discuss R/S issues; 3) other outlets are available to meet the needs of patients who want R/S counseling; and/or 4) R/S discussions are more likely to be acceptable if patients broach the topic or in specific circumstances (e.g., when patients are facing end-of life issues). Overall, responses suggest routine or comprehensive R/S assessments or discussions are not necessary and that GCs would be best equipped to help all their patients if they were prepared to listen, be supportive, and make referrals when R/S issues arise in clinic.     

“The Cancer Bond”: Exploring the Formation of Cancer Risk Perception in Families with Lynch Syndrome

This study explores the social context of hereditary cancer risk perception in three families, an African-American family, a Mexican-American family, and a Caucasian family, each with Lynch Syndrome documented by a mismatch repair gene mutation. Communication network assessments measured family communication about cancer experiences and genetic testing information among a total of 26 participants. Participant narratives were evaluated to gain insight into how family cancer experiences and genetic testing information have shaped perceptions of cancer risk. Analysis of communication networks indicated that some families discussed cancer experiences to a greater extent than genetic testing information, and vice-versa. Interviews elucidated that sharing both types of health information led participants to conceptualize linkages among a strong family history of cancer, genetic testing information, and cancer prevention strategies. Understanding how different types of family communication influence the formation of perceived hereditary disease risk may enhance efforts to tailor genetic counseling services for families.     

What is competent communication behaviour of patients in physician consultations? – Chronically-ill patients answer in focus groups

Many desirable outcomes depend on good patient-physician communication. Patient-based perspectives of what constitutes competent communication behavior with physicians are needed for patient-oriented health care. Therefore it was our main aim to identify competent patient communication skills from the patient’s perspective. We also wanted to reveal any differences in opinion among various groups (chronic ischemic heart disease, chronic low back pain, breast cancer). This study examined nine guideline-supported focus groups in rehabilitation centers. The criterion for study inclusion was any one of the three diagnoses. Enrolled in the study were N = 49 patients (32 women) aged M = 60.1 (SD = 12.8). The interview recordings were transcribed and subjected to content analysis. We documented 396 commentaries in these interviews that were allocated to 82 different codes; these in turn resulted in the formation of 12 main topics. Examples are: posing questions, being an active and participatory patient, being aware of emotions and communicating them. This study represents stage two (‘documentation of patient and clinician views’) in the seven-stage model of communication research. Findings reveal that chronically-ill patients name behaviours that contribute to successful discussion with a physician. These enable us to develop communication trainings and design-measuring tools used for patient-based communication skills.     

Family Communication in Inherited Cardiovascular Conditions in Ireland

Over 100,000 individuals living in Ireland carry a mutated gene for an inherited cardiac condition (ICC), most of which demonstrate an autosomal dominant pattern of inheritance. First-degree relatives of individuals with these mutations are at a 50 % risk of being a carrier: disclosing genetic information to family members can be complex. This study explored how families living in Ireland communicate genetic information about ICCs and looked at the challenges of communicating information, factors that may affect communication and what influence this had on family relationships. Face to face interviews were conducted with nine participants using an approved topic guide and results analysed using thematic analysis. The participants disclosed that responsibility to future generations, gender, proximity and lack of contact all played a role in family communication. The media was cited as a source of information about genetic information and knowledge of genetic information tended to have a positive effect on families. Results from this study indicate that individuals are willing to inform family members, particularly when there are children and grandchildren at risk, and different strategies are utilised. Furthermore, understanding of genetics is partially regulated not only by their families, but by the way society handles information. Therefore, genetic health professionals should take into account the familial influence on individuals and their decision to attend genetic services, and also that of the media.     

Assessment of Current Genetic Counselor Practices in Post-Visit Written Communications to Patients

Providing patients with post-visit written communication (PVWC) is a long-standing component of genetic counseling. However the depiction of this practice in today’s clinical landscape is limited. To better describe this practice, we surveyed practicing clinical genetic counselors to ask if they send post-visit communications to patients and if so, what are the types, the average length, and the average time spent writing. They were also asked the perceived purpose of providing PVWC, if/how the practice has changed over time, and factors influencing the practice. Eighty three percent (233/280) of participants reported sending patients PVWC. Of those, 93% sent at least one communication written in patient-friendly language. The type of communication varied by specialty. Prenatal genetic counselors were less likely to send patient-specific letters and hybrid letters (defined as letters with content intended for both a physician and a patient) than those in cancer genetics (p = 0.010, p = 0.001, respectively) or pediatric genetics (p = 0.001, p = 0.004, respectively). Prenatal genetic counselors spent less time on average writing post-visit communications (19.0 min) relative to those in cancer and pediatric genetics (30.6 min, p = 0.027 and 37.7 min, p = 0.001, respectively). The most commonly cited purpose for sending PVWC was to provide patients a formal account of what happened during the appointment. These data suggest PWVC are still regularly sent to patients but the practice is variable and is influenced by numerous factors including specialty, years of experience, and time constraints.     

Genetic Knowledge Among Participants in the Coriell Personalized Medicine Collaborative

Genetic literacy is essential for the effective integration of genomic information into healthcare; yet few recent studies have been conducted to assess the current state of this knowledge base. Participants in the Coriell Personalized Medicine Collaborative (CPMC), a prospective study assessing the impact of personalized genetic risk reports for complex diseases and drug response on behavior and health outcomes, completed genetic knowledge questionnaires and other surveys through an online portal. To assess the association between genetic knowledge and genetic education background, multivariate linear regression was performed. 4 062 participants completed a genetic knowledge and genetic education background questionnaire. Most were older (mean age: 50), Caucasian (90 %), female (59 %), highly educated (69 % bachelor’s or higher), with annual household income over $100 000 (49 %). Mean percent correct was 76 %. Controlling for demographics revealed that health care providers, participants previously exposed to genetics, and participants with ‘better than most’ self-rated knowledge were significantly more likely to have a higher knowledge score (p?<?0.001). Overall, genetic knowledge was high with previous genetic education experience predictive of higher genetic knowledge score. Education is likely to improve genetic literacy, an important component to expanded use of genomics in personalized medicine.     

Finding a Balance: Reconciling the Needs of the Institution,Patient, and Genetic Counselor for Optimal Resource Utilization

The current practice of cancer genetic counseling is undergoing widespread change and scrutiny. While there are clinical resources for genetic counselors (GCs) regarding the delivery of cancer genetic services, there is limited literature regarding effective management of a genetic counseling clinical program. We have developed administrative tools to manage a large team of GCs at a single academic medical center over a period of increasing demand for genetics services, with the initial aim of decreasing wait time for urgent genetic counseling visits. Here, we describe the three main elements of the clinical operations: Balancing patient volume between GCs, scheduling tracks for both routine and urgent appointments, and a team of triaging GCs to ensure appropriate patient referrals. For each of these elements, we describe how they have been modified over time and present data to support the utility of these strategies. The preliminary evidence offered here suggests that these tools allow for an equitable distribution of patient volume between team members, as well as the timely and accurate scheduling of urgent patients. As a result of the experiences presented here, other genetic counseling programs grappling with similar issues should be aware that it is possible to shift clinical operations to serve certain patient populations in a more timely fashion while keeping both providers and GC staff satisfied.     

Movement of Genetic Counselors from Clinical to Non-clinical Positions: Identifying Driving Forces

A previous study of genetic counselors (GCs) in the state of Indiana identified movement out of clinical positions within the past 2 years. The aims of this study were to determine if this trend is nationwide and identify reasons why GCs are leaving their positions and factors that might help employers attract and retain GCs. An email was sent to members of the American Board of Genetic Counseling with a link to an online confidential survey. There were 939 responses (23.5% response rate). Overall, 52% of GCs report being highly satisfied in their current position, although almost two thirds think about leaving and one third had changed jobs within the past 2 years. Of those who had changed jobs (n =?295), 74.9% had been working in a hospital/clinic setting but only 46.3% currently do, demonstrating a major shift out of the clinic (p <?0.001). The top three reasons cited for leaving a position were work environment/institutional climate, salary/benefits, and a lack of feeling valued/recognized as a professional. These results confirm that GCs are moving out of clinical positions and document elements of job satisfaction. We suggest points for employers to consider when trying to recruit or retain GCs.     

Assessment of the Readability of Genetic Counseling Patient Letters

Patient letters are a powerful tool that genetic counselors use to communicate with their patients. Patient letters are often sent to provide information on a new diagnosis, reiterate test results, and to serve as a permanent record of the visit. Patient letters, however, are only helpful if the patients can understand them. More than 50 % of the US population reads below a 9th grade reading level and over one-third of the population has low health literacy skills. In this study we evaluate the readability of genetic counseling patient letters by assessing reading level, image use, and terminology use. One hundred forty-nine genetic counselors participated in the survey and of these, 79 submitted a sample patient letter. Analyses of the letters revealed a mean reading level of 10.93. On average, 6 genetic terms were included in each letter, and only 25 % of these terms were defined. Analyses of survey responses revealed over 75 % of the genetic counselors did not include images in their patient letters. These results indicate there is room for improvement in order to make genetic counseling patient letters more accessible to the general population.     

Identifying Emergent Social Networks at a Federally Qualified Health Center-Based Farmers’ Market

Identifying potential mechanisms connecting farmers’ market interventions with health, economic, and community outcomes could inform strategies for addressing health disparities. The present study used social network theory to guide the in-depth examination of naturally occurring social interactions at a farmers’ market located at a federally qualified health center located in a rural, low-income community. Trained observers recorded 61 observation logs at the market over 18 weeks. Thematic analysis revealed a range of actors and nonhuman facilitators instrumental to the farmers’ market context. These actors connected with one another for communication and relationship development, economic and financial exchange, education, resource sharing, community ownership of the farmers’ market, and conflict resolution. These interactions provided opportunities for social networks to develop among attendees, which may have facilitated the acquisition of social supports related to improved health, economic and community outcomes. Results provide insight into the role social networks may play in mediating the relationship between a farmers’ market intervention and individual benefits. Findings also contribute to defining the typology of social networks, which may further disentangle the complex relationships between social networks and health outcomes. Future research should identify strategies for purposefully targeting social networks as a way to reduce diet-related health disparities.     

Acceptance of Genetic Counseling and Testing in a Hospital-Based Series of Patients with Gynecological Cancer

Referral of patients with endometrial (EC) and/or ovarian cancer (OC) for genetic counseling is based on age at diagnosis and family history. Many patients with hereditary cancers are missed by following this strategy. We determined acceptance and mutation detection rate of offering genetic counseling and testing to unselected EC and OC patients. Therefore, in 2007, EC and OC patients were invited for genetic counseling and testing. Patients were asked for their reasons to accept or decline. Nineteen out of fifty-two EC patients (36 %) and twenty-two out of thirty-five OC patients (63 %) accepted genetic counseling, mainly to receive risk assessment for themselves and relatives. Counseling was declined mainly because patients did not want more tests or had no relatives for whom it was relevant. Eighteen out of nineteen EC patients (95 %) and twenty out of twenty-two OC patients (91 %) underwent genetic testing. One EC patient carried an MSH6 mutation (mutation detection rate: 6 %). BRCA1/2 mutations were found in two out of twenty OC patients (10 %). Eleven patients (29 %) received surveillance recommendations for themselves and their relatives. Finally, family history recorded by the gynecologist was compared to that taken by the clinical geneticist. Gynecologists reported family history in ten out of forty-one participants (24 %). In conclusion, genetic counseling and testing are acceptable to patients with OC and/or EC. The 10 % BRCA1/2 mutation detection rate and underreporting of family history by gynecologists warrant referral for genetic counseling for all OC patients, followed by BRCA1/2 testing if indicated. We recommend that microsatellite instability and immunohistochemical analysis be performed in all EC patients, followed by genetic counseling if appropriate. These strategies will lead to better cancer prevention in gynecological cancer patients and their relatives.