Counseling Adolescents and the Challenges for Genetic Counselors

Genetic counselors may have an important role in helping the adolescent make an informed decision with regard to genetic testing and in helping them to adjust to genetic risk information. However, counseling techniques that are used with adults may not be always be suited to the adolescent population. Adolescence is a time of development during which separation from the family and formation of identity is achieved. The process of this development may impact the genetic counseling relationship. Family relationships may have a strong influence on the client's decision to have genetic testing. Additionally, it may be difficult to engage the client as adolescents may not have the ability to think abstractly and consider the short and long term consequences of genetic testing. It is helpful therefore to discuss the counseling process and techniques that may be useful when counseling these clients. This paper presents two case studies that illustrate some of the difficulties that may occur when counseling adolescents for genetic testing. The authors' have reflected on their clinical experience with these clients and this is presented here to add to the growing literature on this subject.     

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.     

Counseling Customers: Emerging Roles for Genetic Counselors in the Direct-to-Consumer Genetic Testing Market

Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics’ concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics.     

Genetic Counseling Services and Training of Genetic Counselors in Israel: An Overview

Genetic counseling services have existed in Israel since 1964 and are available in almost all the major hospitals. Given the socialized healthcare system and small country size, genetic services are generally accessible and often free. The existence of founder mutations in various communities in Israel makes genetic testing easier to perform. Yet, the ethnic, cultural and religious diversity of the population has major implications on the design of the screening programs and the use of genetic services. The Israeli Association of Genetic Counselors (IAGC) was established in 2008 and had existed informally since 1989. There are two Master level genetic counseling training programs (6 students/class, 2 year program): Hebrew University-Hadassah Medical School (established in 1997) and the Technion (established in 2009). Genetic counselors’ clinical training is largely observational and 2 years of supervised counseling sessions post degree are required for board exam eligibility. Genetic counselors are licensed and lead counseling sessions individually, but currently must work under medical geneticist supervision. This is the first article to summarize the history and training of Master level genetic counselors in Israel. Genetic services, coverage and regulations are also described.     

Genetic Cancer Risk Assessment and Counseling: Recommendations of the National Society of Genetic Counselors

These cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications of identifying at-risk individuals through cancer risk assessment with or without genetic testing. They were developed by members of the Practice Issues Subcommittee of the National Society of Genetic Counselors Cancer Genetic Counseling Special Interest Group. The information contained in this document is derived from extensive review of the current literature on cancer genetic risk assessment and counseling as well as the personal expertise of genetic counselors specializing in cancer genetics. The recommendations are intended to provide information about the process of genetic counseling and risk assessment for hereditary cancer disorders rather than specific information about individual syndromes. Key components include the intake (medical and family histories), psychosocial assessment (assessment of risk perception), cancer risk assessment (determination and communication of risk), molecular testing for hereditary cancer syndromes (regulations, informed consent, and counseling process), and follow-up considerations. 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 client.     

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.     

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.     

Neurofibromatosis Type 1 in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

The objective of this document is to provide recommendations for the genetic counseling of patients and families undergoing evaluation for neurofibromatosis type 1 (NF1) or who have received a diagnosis of NF1. These recommendations are the opinions of a multi-center working group of genetic counselors with expertise in the care of individuals with NF1. These recommendations are based on the committee’s clinical experiences, a review of pertinent English language medical articles, and reports of expert committees. These recommendations are not intended to dictate an exclusive course of management, nor does the 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 an individual patient. Both Heather B. Radtke and Courtney D. Sebold contributed equally to this document.     

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

These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are based on clinical experience, review of pertinent English language 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. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

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.     

Cystic Fibrosis Prenatal Screening in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made available to pregnant women and their partners, and to couples planning a pregnancy. It is crucial that genetic counselors gain thorough understanding of the complexities of CF and the implications of positive test results, so that they may serve as a reliable, educated referral base and resource for health care providers and their patients. While not all pregnant women will be referred for genetic counseling prior to CF carrier testing, genetic counselors often will be asked to counsel clients after they have a positive test result, or who are found to be at increased risk. Genetic counselors can play an important role in providing accurate and current information as well as support for patients informed decisions. These recommendations were created by a multicenter working group of genetic counselors with expertise in CF and are based on personal clinical experience, review of pertinent English language medical articles, and reports of expert committees. The recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. These recommendations do not displace a health care providers professional judgment based on the clinical circumstances of a particular client.     

From Campers to Counselors: a Resource for Prospective Genetic Counseling Students

When thinking about the future of the genetic counseling field, one place to start is with prospective genetic counseling graduate school applicants. Although resources and mentorship opportunities exist for genetic counselors entering the field, the process of deciding on a career, applying to graduate programs, and being admitted can be daunting. As members of the profession, we should take responsibility for ensuring that individuals have the information and resources necessary to make an educated decision about whether genetic counseling is the correct path for them and to take the initial steps along this path. In this article, we present our Genetic Counseling Boot Camp as a model for other genetic counselors to use in developing their own local programs. This type of program can benefit prospective genetic counselors as they begin their professional journeys and can also provide value for the organizers and presenters who are already seasoned in the field.     

A Rapid Systematic Review of Outcomes Studies in Genetic Counseling

As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict. However, further studies are needed to evaluate a wider array of outcomes in more diverse genetic counseling settings.     

Genetic Evaluation and Counseling of Couples with Recurrent Miscarriage: Recommendations of the National Society of Genetic Counselors

The objective of this document is to provide recommendations for genetic evaluation and counseling of couples with recurrent miscarriage (RM). The recommendations are the opinions of the multidisciplinary Inherited Pregnancy Loss Working Group (IPLWG), with expertise in genetic counseling, medical genetics, maternal fetal medicine, internal medicine, infectious disease, cytogenetics, and coagulation disorders. The IPLWG defines RM as three or more clinically recognized consecutive or non-consecutive pregnancy losses occurring prior to fetal viability (<24 weeks gestation). These recommendations are provided to assist genetic counselors and other health care providers in clinical decision-making, as well as to promote consistency of patient care, guide the allocation of medical resources, and increase awareness of the psychosocial and cultural issues experienced by couples with RM. The IPLWG was convened with support from the March of Dimes Western Washington State Chapter and the University of Washington Division of Medical Genetics. The recommendations are U.S. Preventive Task Force Class III, and are based on clinical experiences, review of pertinent English-language published articles, and reports of expert committees. This document reviews the suspected causes of RM, provides indications for genetic evaluation and testing, addresses psychosocial and cultural considerations, and provides professional and patient resources. These recommendations should not be construed as dictating an exclusive course of medical management, nor does the use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the circumstances of a specific case, should always supersede these recommendations.     

Genetic Counseling Outcomes: Perceived Risk and Distress After Counseling for Hereditary Colorectal Cancer

Genetic counseling may turn risk information into cancer prevention behavior by modifying health beliefs and cancer-related distress. We assessed the effect of genetic counseling on these factors in 101 adult first-degree-relatives of colorectal cancer patients from families with known or suspected hereditary nonpolyposis colorectal cancer. Before counseling and once afterward, subjects completed self-report measures of perceived lifetime risk and cancer-distress. Most persons overestimated their cancer risk, and higher perceived risk was associated with believing that colorectal cancer cannot be prevented. Individual perceived risk changed after counseling, although mean perceived risk was unchanged. After adjusting for baseline risk, older persons and those with higher estimated objective cancer risk had larger postcounseling decreases. Distress after counseling was positively correlated with baseline distress and anxiety symptoms, and inversely correlated with tolerance for ambiguity. The findings suggest counseling interventions that should increase the likelihood of screening and offer hypotheses for future research.     

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 and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal–fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.