A New Definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force Report

The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors: Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: •Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. •Education about inheritance, testing, management, prevention, resources and research. •Counseling to promote informed choices and adaptation to the risk or condition. The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.     

Developing Standard Recommendations (Guidelines) for Genetic Counseling Practice: A Process of the National Society of Genetic Counselors

The National Society of Genetic Counselors (NSGC) supports the development of practice recommendations (guidelines) in the field of genetic counseling. This paper reviews the basic components of NSGC genetic counseling practice recommendations as well as the process for formal adoption of such documents, as approved by the Board of Directors of the NSGC.     

Expanding Roles: A Survey of Public Health Genetic Counselors

According to the 2008 National Society of Genetic Counselors (NSGC) Professional Status Survey (PSS), 31 genetic counselor respondents reported spending at least 50% of their time in the area of public health. The NSGC Public Health Special Interest Group (PHSIG) had 49 dues-paying members in 2009. The purpose of this study was to identify the work settings and public health activities in which genetic counselors participate. A novel online survey was disseminated over the NSGC PHSIG Listserv. Forty-one percent (n = 13) of public health genetic counselor respondents worked in a university medical system, while 53% (n = 17) were grant-funded and held a non-clinical appointment. The most common public health activities included educating healthcare professionals (82%) and community members (61%), research (55%), grant writing (55%) and grant administration (36%). Most respondents (82%) reported learning certain public health skills outside of their genetic counseling training programs. Differences in work settings were found, with a significantly greater percentage of public health genetic counselors working in government agencies. Genetic counselors have opportunities to become involved in public health activities as the scope of public health genetics grows. Furthermore, genetic counseling competencies are compatible with the Institute of Medicine’s “10 Essential Public Health Services.” The NSGC and genetic counseling training programs are encouraged to offer more public health learning opportunities for genetic counselors and genetic counseling students interested in this specialty area.     

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.     

Code of Ethics of the National Society of Genetic Counselors: Explication of Revisions

The Code of Ethics (COE) of the National Society of Genetic Counselors (NSGC) was adopted in 1992. In 2004, the NSGC leadership appointed the Code of Ethics Work Group (COEWG) to consider revisions to the NSGC COE based on advice from the NSGC legal counsel, and to consider additional changes given growth in the scope of genetic counseling practice since the adoption of the original COE. After input from the NSGC membership, changes to the COE addressing the recommendations of the NSGC legal counsel were approved in December 2004. The COEWG then reviewed ethical codes and codes of professional conduct from 22 professional organizations, deemed to have similar goals and philosophies to the NSGC, searching for themes that encompassed genetic counseling practice that might not yet be addressed in the NSGC COE. Additional revisions to the COE were proposed, and after feedback from the NSGC membership, the revised COE was approved in January 2006 by majority vote of full members of the NSGC. The explications for the 2004 and 2006 revisions are presented.     

Diversity and General Student Scholarship Recipient Essays: 2010 National Society of Genetic Counselors Membership Committee

In an effort to increase the diversity of the membership of the National Society of Genetic Counselors (NSGC), the Membership Committee provided two $500 scholarships to genetic counseling students planning to attend the NSGC AEC meeting in Dallas, Texas in October 2010. Requirements for applicants of both scholarships included enrollment in the fall of 2010, good standing at an accredited genetic counseling training program, and NSGC membership or plans to join in 2011. Students who are from communities underrepresented in the NSGC, including, but not limited to, those of minority cultural/ethnic backgrounds and those with disabilities were eligible to apply for the “Diversity” scholarship. Students from all backgrounds who have an interest in diversity issues were eligible to apply for the “General” scholarship. Applicants wrote essays 1000 words or less answering the following questions: How has your identity as a member of a group underrepresented in the genetic counseling profession affected your pursuit of this career? What do you feel is lacking in genetic counseling to address the issues of underrepresented groups? What strategies do you recommend for addressing these issues and/or increasing diversity? Why do you think diversity is an important issue for the field of genetic counseling? What strategies do you recommend to attract and retain students, especially those from underrepresented populations, into the field of genetic counseling? How do you envision contributing to these strategies? The essays by the award recipients elucidated interesting perspectives and ideas for increasing diversity in the genetic counseling profession.     

Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis: the Position of the National Society of Genetic Counselors

The 1997 discovery of free fetal DNA in maternal plasma launched clinical researchers’ efforts to establish a reliable method for non-invasive prenatal testing for fetal genetic conditions. Various methods, including, but not limited to, massively parallel sequencing (MPS) and selective analysis of cell-free fetal DNA in maternal plasma, have recently been developed as highly sensitive and specific noninvasive screening tools for common fetal chromosome aneuploidies. Incorporating these new noninvasive technologies into clinical practice will impact the current prenatal screening paradigm for fetal aneuploidy, in which genetic counseling plays an integral role. The National Society of Genetic Counselors (NSGC) currently supports Noninvasive Prenatal Testing/Noninvasive Prenatal Diagnosis (NIPT/NIPD) as an option for patients whose pregnancies are considered to be at an increased risk for certain chromosome abnormalities. NSGC urges that NIPT/NIPD only be offered in the context of informed consent, education, and counseling by a qualified provider, such as a certified genetic counselor. Patients whose NIPT/NIPD results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counseling and be given the option of standard confirmatory diagnostic testing.     

How Might the Genetics Profession Better Utilize Social Media

Social media is a common method of communication in people’s personal lives and professional settings. Gallagher et al. (2016) recommended, “it is time for genetic counselors to embrace social media as a means of communicating with patients or other healthcare professionals.” Full members of the National Society of Genetic Counselors (NSGC) in the USA and Canada and genetics patients in Cleveland, OH, were surveyed to determine interest in using social media for patient-provider interactions. Both cohorts indicated that patient privacy and confidentiality would be a concern; however, survey results indicated patients would be interested in using social media to receive general information about genetic counseling and to learn about genetics services. Genetic counselors indicated privacy issues were not concerning if social media were to be used in this capacity. The majority of genetic counselor participants (88.7%) indicated they would welcome national guidelines for patient-provider social media use. Data from this study demonstrated that sharing what to expect at a genetic counseling appointment, defining genetic counseling, and announcing community outreach events are possible ways genetic counselors could utilize social media to communicate with and educate patients.     

Prevalence and Characteristics of Patients with Suspected Inherited Renal Cell Cancer: Application of the ACMG/NSGC Genetic Referral Guidelines to Patient Cohorts

Patients with suspected hereditary renal cell cancer (RCC) are under-referred for genetic evaluation. Characterizing the prevalence and characteristics of suspected inherited RCC is a crucial step toward advancing personalized, genetically-based cancer risk management for patients and their families. To evaluate the prevalence and characteristics of suspected inherited RCC syndromes based on consensus criteria, we performed a cross-sectional analysis of patients with a diagnosis of RCC in SEER (2001–2011, n = 105,754) and in our institutional cancer registry (2004–2013, n = 998). Consensus criteria for referral of patients with RCC for genetic evaluation from the American College of Medical Genetics and Genomics and National Society of Genetic Counselors (ACMG/NSGC) were applied to the two cohorts. The associations between meeting referral criteria with demographic characteristics were assessed with chi-square tests. Overall, 24.0 % of the SEER cohort and 33.7 % of our institutional cohort met ACMG/NSGC referral criteria for genetic counseling. While white patients more commonly met early onset clear cell RCC criteria, black patients met papillary RCC criteria at twice the rate of whites in both cohorts (p < 0.0001). As many as 1 in 5 individuals with RCC meet referral criteria for genetic evaluation based on newly emerging guidelines, with differences in pathology noted by race. Prospective genetic testing studies utilizing emerging referral guidelines should help to refine the genetic spectrum of inherited kidney cancer. This study supports efforts to increase awareness of referral of patients with RCC for genetic counseling particularly among urologic providers.     

Talking about Disability in Prenatal Genetic Counseling: A Report of Two Interactive Workshops

Women are commonly offered testing in pregnancy to determine the health of their baby. An important component of informed decision-making about prenatal testing is provision of relevant, accurate, meaningful information concerning the conditions that are being tested for—many of which, such as Down syndrome, are associated with a varying degree of physical and intellectual disability. A range of health professionals, including genetic counselors, may provide information and support throughout the testing process, but available data suggest that discussion of disability is frequently absent or limited. To investigate genetic counselors’ perceptions of this situation and identify potential barriers to discussion we facilitated interactive workshops at the 2007 National Society of Genetic Counselors Annual Education Conference (NSGC) and the 2008 European Meeting on Psychosocial Aspects of Genetics (EMPAG). Working groups identified relevant psychosocial issues and impediments to discussion (NSGC) or used a two-part scenario to promote discussion (EMPAG) and reported findings in notes and a closing plenary discussion. Inductive content analysis revealed that participants considered informed decision making to be a major reason for presenting information about disabilities in prenatal genetic counseling and endorsed the value of including information about daily life with Down syndrome and other disabilities. However, they identified three broad types of impediments to such discussion: counseling issues concerning the most appropriate manner to discuss disability under the complex circumstances of prenatal genetic counseling, less than optimal training and experience in addressing these issues, and perceived limitations in the participants’ knowledge and understanding of life with disability. Our analysis of the responses from the workshop participants and additional thoughts on these issues have led us to develop recommendations for further research, training and clinical practice.     

Genetic Counseling for Fragile X Syndrome: Recommendations of the National Society of Genetic Counselors

The National Society of Genetic Counselors' (NSGC) recommendations for fragile X syndrome (FXS) genetic counseling are intended to assist health care professionals who provide genetic counseling for individuals and families in whom the diagnosis of FXS is strongly suspected or has been made. The recommendations are the opinions of genetic counselors with expertise in FXS counseling and are based on clinical experience, a review of pertinent English language medical articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care provider's professional judgment based on the clinical circumstances of a particular client.     

Report from the National Society of Genetic Counselors Service Delivery Model Task Force: A Proposal to Define Models, Components, and Modes of Referral

The Service Delivery Model Task Force (SDMTF) was appointed in 2009 by the leadership of the National Society of Genetic Counselors (NSGC) with a charge to research and assess the capacity of all existing service delivery models to improve access to genetic counseling services in the context of increasing demand for genetic testing and counseling. In approaching this charge, the SDMTF found that there were varying interpretations of what was meant by "service delivery models" and the group held extensive discussions about current practices to arrive at consensus of proposed definitions for current genetic service delivery models, modes of referral and components of service delivery. The major goal of these proposed definitions is to allow for conversations to begin to address the charge to the committee. We propose that current models of service delivery can be defined by: 1) the methods in which genetic counseling services are delivered (In-person, Telephone, Group and Telegenetics), 2) the way they are accessed by patients (Traditional referral, Tandem, Triage, Rescue and Self-referral) and 3) the variable components that depend upon multiple factors unique to each service setting. This report by the SDMTF provides a starting point whereby standardized terminology can be used in future studies that assess the effectiveness of these described models to overcome barriers to access to genetic counseling services.     

Update and Review: Cystic Fibrosis

Cystic fibrosis (CF) is one of the most commonly inherited recessive disorders in U.S. Caucasians, with a carrier frequency of approximately 1 in 29. Genetic counseling and CF mutation analysis has traditionally been offered to the affected patient and his/her extended family, in keeping with policy statements from professional organizations (ASHG, NSGC, ACOG). The target population for CF testing and counseling may be evolving after the release of the 1997 National Institutes of Health Consensus Statement, Genetic Testing for Cystic Fibrosis, which recommends that CF screening be offered to all preconceptional and pregnant couples. Genetic counseling for CF is complicated by reports of polymorphisms in the CF gene that are associated with symptoms that do not meet the diagnostic criteria for CF, such as bilateral congenital absence of the vas deferens, bronchiectasis, and idiopathic pancreatitis. To aid genetic counselors with these issues, this review explores the symptoms of CF, patient management, gene function, genetics, genotype/phenotype correlation, and genetic counseling issues.     

Billing for Medical Genetics and Genetic Counseling Services: A National Survey

In January 2007 the American Medical Association added a new Current Procedural Terminology® (CPT) code, 96040, for “Medical Genetics and Genetic Counseling Services.” In order to identify the impact of having this new code and to identify issues with implementation of the code, the National Society of Genetic Counselors (NSGC) CPT® Working Group surveyed NSGC members using an internet-based survey tool. The majority of respondents (94%) reported being aware of the new code and over half of the respondents (69%) said they were billing for genetic counseling. Approximately 24% of those billing reported using 96040. Many facilities are not using this code and the reported success of billing using 96040 is highly varied. Continued education may be beneficial to encourage reimbursement for 96040 and follow up is needed to assess the ongoing implementation and impact of the new CPT® code.     

Effects of Second Language Usage on Genetic Counseling Training and Supervision

We conducted an exploratory study of the experiences of genetic counselors who have either trained or supervised in a second language to assess the relevance of this issue to genetic counseling training and supervision. Two hundred-thirty NSGC members, CAGC members and genetic counseling students completed the online questionnaire. Many of the respondents reported that training and supervision differed when another language was involved. Supervisors reported difficulty in assessing students’ counseling skills and discomfort with an incomplete understanding of session content. Students described a greater focus on vocabulary at the expense of psychosocial dimensions. Despite this, most felt that using another language enhanced their training experience. As such, training programs might consider increasing support to these learners and supervisors by explicitly acknowledging the challenges they face, providing students with language tools to aid in their acquisition of basic skills and providing supervisors with new methods for assessing student counseling skills when using other languages.     

Genomic Counseling in the Newborn Period: Experiences and Views of Genetic Counselors

As newborn screening (NBS) technology expands, genetic counselors will become more involved in counseling for NBS results, including those potentially generated from whole exome sequencing (WES) and eventually whole genome sequencing (WGS). Members of the National Society of Genetic Counselors (NSGC) responded to an online survey (n?=?208) regarding genomic counseling in the context of NBS. The majority of participants (82.1 %) did not feel prepared to counsel for WGS results from NBS. Counselors with previous WES/WGS counseling experience felt more prepared (p?=?0.005) to counsel for WGS results from NBS than those without WES/WGS experience. Overall, counselors expressed ethical and practical concerns regarding WGS in NBS, as well as a need for additional training regarding this application of the technology before it is implemented. Based on the results of this study, genetic counselors voice caution to the larger genetics community regarding expansion of NBS to incorporate genomic sequencing and advocate for additional education prior to initiating WGS into NBS.     

An Oral History of the National Society of Genetic Counselors

Master's level genetic counselors formed a professional society in 1979, 8 years after the first master's degree training program graduation. This paper presents an oral history of the early years of the National Society of Genetic Counselors (NSGC), reviews the symbiotic development and definition of a profession and a professional society, and discusses events and achievements attributed to the NSGC since its incorporation. This retrospective historical account is based on personal and collective oral history, NSGC archival material and other sources.