Newborn Screening for Lysosomal Storage Disorders: Views of Genetic Healthcare Providers

Lysosomal storage diseases (LSDs), lysosomal enzyme deficiencies causing multi-system organ damage, have come to the forefront in newborn screening (NBS) initiatives due to new screening technologies and emerging treatments. We developed a qualitative discussion tool to explore opinions of genetic healthcare providers (HCPs) regarding population-based NBS for MPS types 1 and 2, Pompe, Gaucher, Fabry, and Krabbe diseases. Thirty-eight telephone interviews conducted by a single researcher were analyzed and coded for thematic trends. Six major themes emerged: 1) treatment availability and efficacy is crucial; 2) early age of disease onset is important; 3) ambiguity regarding prognosis is undesirable; 4) parents’ ability to make reproductive decisions is seen by some as a benefit of NBS; 5) paucity of resources for follow-up exists; and 6) the decision-making process for adding conditions to mandated NBS is concerning to HCPs. Among the LSDs discussed, Pompe was considered most appropriate, and Krabbe least appropriate, for NBS. MPS1 and MPS2 were overall considered favorably for screening, but MPS1 ranked higher, due to a perception of better efficacy of therapeutic options. Fabry and Gaucher diseases were viewed less favorably due to later age of onset. The themes identified in this study must be addressed by decision-makers in expanding NBS for LSDs and may be applied to many diseases being considered for NBS in the future.     

Genetic Counseling as a Tool for Type 2 Diabetes Prevention: A Genetic Counseling Framework for Common Polygenetic Disorders

Advances in genetic epidemiology have increased understanding of common, polygenic preventable diseases such as type 2 diabetes. As genetic risk testing based on this knowledge moves into clinical practice, we propose that genetic counselors will need to expand their roles and adapt traditional counseling techniques for this new patient set. In this paper, we present a genetic counseling intervention developed for a clinical trial [Genetic Counseling/Lifestyle Change for Diabetes Prevention, ClinicalTrials.gov identifier: NCT01034319] designed to motivate behavioral changes for diabetes prevention. Seventy-two phenotypically high-risk participants received counseling that included their diabetes genetic risk score, general education about diabetes risk factors, and encouragement to participate in a diabetes prevention program. Using two validated genetic counseling scales, participants reported favorable perceived control and satisfaction with the counseling session. Our intervention represents one model for applying traditional genetic counseling principles to risk testing for polygenetic, preventable diseases, such as type 2 diabetes.     

Complex Genetic Disorders: Evaluating When Genetic Research Findings Are Applicable for Genetic Counseling Practice

Traditional genetic counseling processes and principles will be extended to a new realm—complex disorders. Although it may seem like a daunting task, understanding the methodologies used to study complex genetic disorders will enable genetic counselors to critically analyze research studies involving complex disorders. In this article, we explain newly evolving methodologies for genetic research, including case-control studies and transmission disequilibrium testing (TDT). Additionally, a framework is provided for evaluating original research findings and replication studies.     

Equal Opportunity Programs: A Case for Counseling

The Civil Rights Act of 1964, under Title VI, requires that institutions of higher education submit enrollment figures according to ethnic breakdown for federal monies to be allocated. Such requirements are indicative of efforts to diversify student populations. The Higher Education Act of 1965 also incorporates a number of related programs—Supplemental Opportunity Grants, College Work Study, Talent Search, Upward-Bound—which are designed to provide direct or indirect assistance to disadvantaged students. (Gordon, 1975)     

UCLA's Career Counseling Center: A Dialogue About a Unique Service

In this interview, two counseling psychologists describe aspects of a relatively unique career counseling service that has been validated by 40 years of success in the marketplace. Composed of 3 intensive individual interviews and 15 to 25 hours of educational and psychological testing, the service assists clients in identifying and beginning pursuit of suitable educational and occupational goals. The counselors describe how they organize and sift through test results to formulate recommendations for a client's unique career circumstances, why they accept responsibility for developing and presenting concrete recommendations, and what the changes in their clients' concerns suggest about the evolution of work in the United States. Their specificity and professionalism will help counselors understand the craft of career counseling.     

An Opportunity for Genetic Counseling Intervention: Depression in Parents of Individuals with Proteus Syndrome

Depression is common, affecting 2–5% of the general population. Parental depression can confound adjustment to, and caring for, a child with a genetic condition. As part of a study on psychosocial issues of parents caring for children with Proteus syndrome, 31 parents (20 mothers and 11 fathers) completed a depression screening tool, the Beck Depression Inventory. Approximately 23% (4/20 mothers and 3/11 fathers) scored positive on the tool. Pessimism, sense of failure, general lack of satisfaction, sense of punishment, self-dislike, social withdrawal, indecisiveness, work inhibition, somatic preoccupation, and loss of libido were reported more frequently by the group of parents with positive screen results than those with normal results. These data suggest that symptoms of depression may be prevailing among parents of individuals with Proteus syndrome. Because effective interventions for depression are readily available, genetic counselors working with families affected with rare, overgrowth disorders should specifically assess parents for physical and affective symptoms of depression and refer them for appropriate clinical treatment.     

Genetic Counseling: A Transnational Perspective

Although the basic goal and components of genetic counseling appears to be the same across the globe, judged by my experiences there are significant differences in the provision of genetic counseling services in Australasia (Australia and New Zealand) and India. There is poor recognition of the professional status of a genetic counselor in India at present. This may be partly because genetic counseling itself is a relatively new discipline within the medical field in India, although some types of genetic services and research have been conducted since 1960s. In this paper, I aim to provide insight from my personal transnational experiences.     

Consideration of Genetic Counseling as a Career: Implications for Diversifying the Genetic Counseling Field

Under-representation of racial/ethnic minority counselors has been an ongoing issue in the genetic counseling field. A better understanding of genetic counseling awareness and career consideration may help to increase the number of applicants to genetic counseling training programs from racial/ethnic minorities. This study sampled high school and college students (n = 233) to examine their awareness and perceptions of genetic counseling. Ethnicity, gender, parental level of education, and interest in biology were significant predictors of a subjects genetic counseling awareness; previous awareness of genetic counseling, interest in psychology, and level of education were significant predictors of whether a subject would consider genetic counseling as a career. The findings suggest that knowledge of genetic counseling is lower among racial/ethnic minorities, but that racial/ethnic minorities are just as likely to consider genetic counseling as a career. Awareness of genetic counseling prior to university education may increase racial/ethnic minority representation among potential applicants to genetic counseling training programs.     

Patient Satisfaction with Cancer Genetic Counseling: A Psychometric Analysis of the Genetic Counseling Satisfaction Scale

Satisfaction is an important patient reported outcome of genetic counseling, as it is one of the elements used by professional organizations and healthcare accrediting bodies to determine the quality of professional work. However, empirical research on patient satisfaction with genetic counseling has been limited, partly due to the lack of standardized measures available to assess this construct. The purpose of this study was to conduct a psychometric analysis of a new satisfaction measure, the Genetic Counseling Satisfaction Scale (GCSS), within a sample of women participating in a no-cost cancer genetic counseling and testing program. The sample consisted of 61 women undergoing counseling and testing for hereditary breast-ovarian cancer risk (BRCA1/2 testing) who completed the GCSS following pretest counseling. The results suggest that the GCSS was reliable (Cronbach's coefficient alpha = 0.90) and that participants were highly satisfied with the care they received. In addition, there were no differences in satisfaction between cancer genetic counseling and prenatal counseling participants (based on preexisting norms), and satisfaction did not vary by sociodemographic characteristics. Implications and recommendations are discussed.     

Teaching Genetic Counseling Skills: Incorporating a Genetic Counseling Adaptation Continuum Model to Address Psychosocial Complexity

Genetic counselors are trained health care professionals who effectively integrate both psychosocial counseling and information-giving into their practice. Preparing genetic counseling students for clinical practice is a challenging task, particularly when helping them develop effective and active counseling skills. Resistance to incorporating these skills may stem from decreased confidence, fear of causing harm or a lack of clarity of psycho-social goals. The author reflects on the personal challenges experienced in teaching genetic counselling students to work with psychological and social complexity, and proposes a Genetic Counseling Adaptation Continuum model and methodology to guide students in the use of advanced counseling skills.     

Employability of Genetic Counselors with a PhD in Genetic Counseling

The development of a PhD in genetic counseling has been discussed for more than 20 years, yet the perspectives of employers have not been assessed. The goal of this qualitative study was to gain an understanding of the employability of genetic counselors with a PhD in genetic counseling by conducting interviews with United States employers of genetic counselors. Study participants were categorized according to one of the following practice areas: academic, clinical, government, industry, laboratory, or research. All participants were responsible for hiring genetic counselors in their institutions. Of the 30 employers interviewed, 23 envisioned opportunities for individuals with a PhD degree in genetic counseling, particularly in academic and research settings. Performing research and having the ability to be a principal investigator on a grant was the primary role envisioned for these individuals by 22/30 participants. Employers expect individuals with a PhD in genetic counseling to perform different roles than MS genetic counselors with a master's degree. This study suggests there is an employment niche for individuals who have a PhD in genetic counseling that complements, and does not compete with, master's prepared genetic counselors.     

A Survey of Clinical Supervision in Genetic Counseling

Three hundred and thirty-five full members of the National Society of Genetic Counselors completed a survey concerning the nature of clinical supervision for genetic counseling students. Slightly over half (54.3%, n = 182) had provided clinical supervision within the past 5 years. Of those who supervised, 66.7% had 5 years or less supervision experience, and 55% had supervised 10 or fewer students. The majority became supervisors because they enjoy teaching and contributing to the profession. Common reasons for not supervising include no local graduate program, and had never been asked to supervise. Live supervision is the most prevalent student evaluation method: every supervisor reported providing one-on-one oral feedback, and 47.3% indicated that they always provide feedback immediately following a counseling session. The most frequent challenges involve students who lack technical knowledge and who fail to incorporate feedback. Training, policy, and research implications are discussed.     

Assessment of the Use and Feasibility of Video to Supplement the Genetic Counseling Process: A Cancer Genetic Counseling Perspective

Cancer genetic counselors use a variety of teaching modalities for patient education. This survey of cancer genetic counselors assessed their use of educational videos and their recommendations for content of future videos. Thirty percent of respondents use videos for patient education. Cited benefits included reinforcement of information for clients and increased counselor efficiency. Of the 70% who do not use videos, predominant barriers included the perceived lack of an appropriate video, lack of space and/or equipment, and concern that videos are impersonal. Most respondents desired a video that is representative of the genetic counseling session, but emphasized the importance of using broad information. Content considered critical included the pros and cons of genetic testing, associated psychosocial implications, and genetic discrimination. The results of this exploratory study provide data relevant for the development of a cancer genetics video for patient education, and suggestions are made based on aspects of information processing and communication theories.     

Genetic Counseling Assistants: an Integral Piece of the Evolving Genetic Counseling Service Delivery Model

This study explores the potential impact of the genetic counseling assistant (GCA) position on the efficiency of the genetic counseling field, evaluates attitudes regarding expansion of the genetic counseling field to include the GCA, and presents data on GCA endeavors and GCA job tasks as reported by GCAs, certified genetic counselors (CGCs), and program directors (PDs). Data on GCA roles and attitudes toward different aspects of the GCA position were collected via surveys of CGCs who have worked with GCAs, PDs who have and have not had experience with GCAs in their programs, and GCAs. We analyzed responses from 63 individuals: 27 PDs, 22 CGCs, and 14 GCAs. GCAs’ impact on efficiency was calculated via internal analysis of genetic patient volume per genetic counselor within the University of Texas Southwestern (UTSW) patient database prior to, and since the addition of, a GCA to the practice. The response rates for PDs, CGCs, and GCAs were 27 %, 79 %, and 61 %, respectively. Every CGC stated the GCA increased their efficiency. CGCs with a GCA reported a 60 % average increase in patient volume. This figure was congruent with internal data from the UTSW cancer genetics program (58.5 % increase). Appropriate responsibilities for GCAs as reported by CGCs and PDs (>90 %) include: data entry, shipping tests, administrative tasks, research, and ordering supplies. Regarding GCAs delivering test results, there was response variation whether this should be a job duty: 42 % of CGCs agreed to GCAs delivering negative results to patients, compared to 22 % of program directors. Twenty-two percent of PDs expressed concern about the job title “Genetic Counseling Assistant.” Ninety percent of CGCs felt that GCA was a career path to becoming a CGC, compared to 42 % of PDs. Eighty-three percent of GCAs who decided to apply to CGC graduate programs were accepted. We conclude the addition of a GCA to a genetic counseling practice contributes to increased efficiency and is one way to expand the reach of the profession.     

Genetic Counseling Supervisor Competencies: Results of a Delphi Study

Clinical supervision is a critical component of genetic counseling student preparation, yet empirically-determined competencies for genetic counseling supervisors are lacking. In this study a modified, two-round Delphi method was used to gain consensus about important genetic counseling supervisor knowledge, characteristics, and skills. Program directors and assistant directors of American Board of Genetic Counseling accredited genetic counseling programs in North America (N?=?33) were invited to participate and to recruit three experienced supervisors. Seventy-four individuals completed Round 1 and, of these, 61 completed Round 2. Approximately two-thirds were clinical supervisors from prenatal, pediatrics, cancer, and adult clinics; one-third were program directors. Participants rated the importance for genetic counseling supervisors of 158 items derived from supervision literature in allied health professions. They rated 142 items (89.9 %) as highly important. Content analysis of these items yielded six supervisor competency domains: Personal traits and characteristics; relationship building and maintenance; student evaluation; student centered supervision; guidance and monitoring of patient care; and ethical and legal aspects of supervision. The results provide a basis for training genetic counseling supervisors and for further research to refine and validate supervisor competencies.