Genetic counselor training: a review and considerations for the future.

The first training program for genetic counselors began in 1969. Since then a number of other programs have been developed and more than 650 individuals have graduated from these programs. This article reviews the development and current status of training opportunities for genetic counselors. Twelve programs that currently grant a master's-level degree in genetic counseling are reviewed. Other areas, such as certification and licensure, that reflect genetic counseling training or such issues of professional growth as continuing education and career advances are addressed.     

Education of nurses in genetics.

The need for education of nurses in genetics was articulated more than 25 years ago. This article reviews the knowledge of practicing nurses about genetics as well as the content of genetics in nursing curricula. Implementation of federal legislation that mandated increased availability of genetic services and genetics education provided support for the examination of genetics content in curricula for health professionals, including nurses, and for the development of model programs to expand this content. Recent efforts to begin to develop a pool of nurse faculty who are well prepared in genetics will be described, as well as programs to provide the necessary content through continuing-education efforts. These efforts are expected to substantially improve the capability of nurses to contribute more effectively in the delivery of genetic services.     

Development of a genetics education workshop curriculum for Native American college and university students.

The long-term goal of Genetic Education for Native Americans (GENA), a project funded by the National Human Genome Research Institute (NHGRI), is to provide a balance of scientific and cultural information about genetics and genetic research to Native Americans and thereby to improve informed decision making. The project provides culturally sensitive education about genetic research to Native American medical students and college and university students. Curriculum development included focus groups, extensive review of available curricula, and collection of information about career opportunities in genetics. Special attention was focused on genetic research to identify key concepts, instructional methods, and issues that are potentially troublesome or sensitive for Native Americans. Content on genetic research and careers in genetics was adapted from a wide variety of sources for use in the curriculum. The resulting GENA curriculum is based on 24 objectives arranged into modules customized for selected science-related conference participants. The curriculum was pretested with Native American students, medical and general university, health care professionals, and basic scientists. Implementation of the curriculum is ongoing. This article describes the development and pretesting of the genetics curriculum for the project with the expectation that the curriculum will be useful for genetics educators working in diverse settings.     

Education and certification of genetic counselors.

Genetic counseling is defined by the American Society of Human Genetics as a communication process which deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. The first graduate program (Master's degree) in genetic counseling started in 1969 at Sarah Lawrence College, NY, USA, while in 1979 the National Society of Genetic Counseling (NSGC) was established. Today, there are 29 programs in U.S.A. offering a Master's degree in Genetic Counseling, five programs in Canada, one in Mexico, one in England and one in S. Africa. Most of these graduate programs offer two year training, consisting of graduate courses, seminars, research and practical training. Emphasis is given in human physiology, biochemistry, clinical genetics, cytogenetics, molecular and biochemical genetics, population genetics and statistics, prenatal diagnosis, teratology and genetic counseling in relation to psychosocial and ethical issues. Certification for eligible candidates is available through the American Board of Medical Genetics (ABMG). Requirements for certification include a master's degree in human genetics, training at sites accredited by the ABMG, documentation of genetic counseling experience, evidence of continuing education and successful completion of a comprehensive ABMG certification examination. As professionals, genetic counselors should maintain expertise, should insure mechanisms for professional advancement and should always maintain the ability to approach their patients.     

Genetic counseling as an occupational specialty: A sociological perspective

Abstract

Observations of client‐counselor interaction during genetic counseling sessions at a metropolitan hospital on the West Coast identified five major problems with which genetic counselors had to deal. Their clients needed: (1) a diagnosis of the disease condition; (2) an evaluation of the genetic nature of the condition; (3) to be taught biomedical information; (4) assistance in coping with psychological stress; and (5) information on available community resources and social service support. The genetic counselors under observation tended to satisfy the clients’ first two needs, the need for a diagnosis and for a genetic evaluation, but they tended not to satisfy the clients’ needs in the areas of education and psychosocial counseling. Genetic counseling appears to demand a synthesis of five different professional skills, those of the medical doctor, the geneticist, the educator, the psychotherapist, and the social worker. These findings are discussed in terms of their relevance for creating programs for training genetic counselors.     

Prenatal screening for hemoglobinopathies. II. Evaluation of counseling.

Learning during genetic counseling is often below expectations, especially in the context of genetic screening. In this report we describe learning as a result of genetic counseling of 298 pregnant women identified as hemoglobinopathy carriers, 234 with sickle cell trait and 64 with beta-thalassemia trait. Counseling was designed to provide the information needed in a simple, clear, and nondirective manner. A special videotape produced for this purpose provided dramatization and a role model illustrating an appropriate response. After viewing the videotape the counselee had an opportunity to question the counselor and to have any misconceptions corrected. Questionnaires revealed significantly increased knowledge as a result of counseling in each of the three hemoglobinopathy subject areas tested-namely, clinical manifestations, genetics, and prenatal diagnosis. Five factors correlated with higher knowledge scores after counseling-namely, a younger patient age, more years of education, knowledge of having trait before this identification, knowledge of the baby's father having trait before counseling, and having no prior children.     

Human genetics teaching in U.S. medical schools.

Information about instruction in genetics was obtained fron 103 of the 107 U.S. four-year medical schools. Seventy-two percent of the schools provide a compulsory course in genetics, but there was great variation in duration, content, departmental responsibility for giving the course, and in the disciplines of those doing the teaching. The variability in the number of hours devoted to teaching genetics was reflected in the competence of the students in giving correct answers to questions on genetics posed by the National Board of Medical Examiners. Electives and continuing education courses on genetics are given by two-thirds and one-half of the schools, respectively; but the subject receives very little attention in departments of preventive, community, or family medicine or in schools of allied health sciences. These findings suggest that genetics has not yet found a natural and comfortable context in the curricula of U.S. medical schools.     

Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial

Genetic counseling and testing, particularly for adult onset conditions, has become increasingly available over the last decade, and it is expected that this trend will continue as additional genes are identified and as such testing diffuses into mainstream clinical care. To meet the increased demand for services, it will become necessary to explore alternative avenues to traditional face-to-face genetic counseling. One such modality is the use of telephone genetic counseling (TGC), which is easy to implement and still allows for comprehensive service delivery. Although TGC has been used with increased frequency, there is a paucity of data about its effectiveness and impact on important patient outcomes. This paper provides an overview of the evolution of telephone counseling in nongenetics and genetics settings. The rationale and aims of the largest randomized clinical trial to be performed with this mode of counseling in the context of cancer susceptibility testing for mutations in the BRCA1 and BRCA2 genes are also explained. In addition, procedural aspects of the genetic counseling intervention and the novel tools developed to facilitate this process and to ensure adequate counselor training and quality assurance are described.     

Sickle cell trait counseling-evaluation of counselors and counselees.

In this study, information about both counselee and counselor performance was obtained from taped recordings of 193 structured counseling sessions with persons diagnosed as having sickle cell trait. The data provide evidence that: (1) lay persons can understand essential sickle cell information; (2) trained lay persons using a structured format can transmit successfully sickle cell information; (3) only education and age, among counselee characteristics studies, were related to successful learning; (4) the evaluation of information transfer in counseling programs cannot be limited to counselees' comprehension but must also consider other variables such as counselor performance and curriculum content; (5) a reduction in negative feelings associated with a diagnosis of sickle cell trait is an immediate effect of counseling; and (6) audio-taping of counseling sessions is client acceptable and useful for evaluation, quality control, and counselor training.     

The genetic risk screening, education, and referral program: a model program for training of health professionals.

This report describes a statewide program which trains family-planning personnel to provide genetic risk screening, to educate clients about potential genetic risks, and to make appropriate referrals to genetics centers. The program is unique in that training and service delivery are all done within the structure and agencies of the family-planning councils of Pennsylvania. Through the collaboration of the Pennsylvania Department of Health, the family-planning councils, and trainers from clinical genetics centers, a uniform and comprehensive program for training and service delivery has evolved. This program now provides genetic risk screening for nearly 100,000 women/year, many of whom are from groups typically underserved by genetics services.     

Children’s book series and associated curricula support elementary education and outreach in water resources

Background: Water resources are of fundamental importance to society, and are better managed by stakeholders who understand resource issues. Gaining such knowledge is a lifelong process best begun at an early age and best supported by educational approaches integrating across science, technology, engineering and mathematics (STEM). Research scientists can bring resource education to young audiences through children’s books and curricula that emphasise and integrate across STEM principals.

Aims: To encourage empathy for the environment in younger students, researchers at the Niwot Ridge Long Term Ecological Research site have developed a children’s book series and methods for training teachers in water science education.

Methods: Children’s books in the My Water series are paired with curricula, hands-on learning kits, teacher development training and dissemination of materials through school districts to further water science education.

Results: Thousands of children and educators have received training through the My Water book series, and a more broadly focused, federally funded Schoolyard Children’s Book Series has grown out of these efforts towards water resource education.

Conclusions: Children’s books and curricula that integrate STEM principals can play a key role in the development of environmental empathy and lifelong learning to support resource management.     

Science and society: applications of behavioural genetics: outpacing the science?

Human behavioural genetics is an established research discipline of the genomic age, and applications for behavioural genetic information are most likely to emerge in areas such as criminal justice, education, employment and insurance. However, behavioural genetic research into personality traits and antisocial behaviour poses several risks; for example, tentative or preliminary research findings might be misused in legal and commercial settings. Scientific caution, public and media education, expert consultation and confidentiality protection are essential for the responsible use of behavioural genetics.     

Application of Molecular Biology and Genetics in Endocrinology

ObjectiveTo review the growing impact of molecular biology and genetics on clinical endocrinology.MethodsMedical literature, databases, and Web sites describing genetics and genomic medicine with relevance for clinical endocrinology were reviewed.ResultsMany monogenic disorders can now be explained at the molecular level and the diagnosis can be established through mutational analysis. The ability to establish a molecular diagnosis is relevant for carrier detection and genetic counseling. In contrast to the significant advances in monogenic disorders, the current knowledge about the genetic components contributing to the pathogenesis of complex disorders is still relatively modest and is a major focus of current research efforts. Molecular biology already has an important impact on therapy in endocrine disorders. A broad spectrum of recombinant peptides and proteins are used in daily practice, eg, insulin and insulin analogues. Moreover, the increasingly detailed understanding of the molecular pathogenesis of cancer is leading to the development of novel and more specific inhibitors. While genetic testing has many advantages, it is important that physicians and patients are aware of potential limitations. They include, among others, technical limitations and allelic and nonallelic heterogeneity. These limitations need to be discussed in detail with patients and relatives, and it is often useful to involve a genetic counselor before obtaining informed consent by the individuals undergoing testing.ConclusionMolecular biology and genetics play an increasingly important role for the diagnosis and therapy of endocrine disorders. Challenges for the future include the elucidation of the genetic components contributing to complex disorders, eg, diabetes mellitus type 2, and the development of cheaper and comprehensive DNA sequencing technologies. Lastly, it is important that there is continuing attention directed towards the ethical, social, and legal aspects surrounding genetic medicine. (Endocr Pract, 2007;13: 534-541)     

Effect of Comprehensive Oncogenetics Training Interventions for General Practitioners,Evaluated at Multiple Performance Levels

General practitioners (GPs) are increasingly called upon to identify patients at risk for hereditary cancers, and their genetic competencies need to be enhanced. This article gives an overview of a research project on how to build effective educational modules on genetics, assessed by randomized controlled trials (RCTs), reflecting the prioritized educational needs of primary care physicians. It also reports on an ongoing study to investigate long-term increase in genetic consultation skills (1-year follow-up) and interest in and satisfaction with a supportive website on genetics among GPs. Three oncogenetics modules were developed: an online Continuing Professional Development (G-eCPD) module, a live genetic CPD module, and a “GP and genetics” website (huisartsengenetica.nl) providing further genetics information applicable in daily practice. Three assessments to evaluate the effectiveness (1-year follow-up) of the oncogenetic modules were designed: 1.An online questionnaire on self-reported genetic competencies and changes in referral behaviour, 2.Referral rates from GPs to clinical genetics centres and 3.Satisfaction questionnaire and visitor count analytics of supportive genetics website. The setting was Primary care in the Netherlands and three groups of study participants were included in the reported studies:. Assessment 1. 168 GPs responded to an email invitation and were randomly assigned to an intervention or control group, evaluating the G-eCPD module (n = 80) or the live module (n = 88). Assessment 2. Referral rates by GPs were requested from the clinical genetics centres, in the northern and southern parts of the Netherlands (Amsterdam and Maastricht), for the two years before (2010 [n = 2510] and 2011 [n = 2940]) and the year after (2012 [n = 2875]) launch of the oncogenetics CPD modules and the website. Assessment 3. Participants of the website evaluation were all recruited online. When they visited the website during the month of February 2013, a pop-up invitation came up. Of the 1350 unique visitors that month, only 38 completed the online questionnaire. Main outcomes measure showed long-term (self-reported) genetic consultation skills (i.e. increased genetics awareness and referrals to clinical genetics centres) among GPs who participated in the oncogenetic training course, and interest in and satisfaction with the supportive website. 42 GPs (52%) who previously participated in the G-eCPD evaluation study and 50 GPs (57%) who participated in the live training programme responded to the online questionnaire on long-term effects of educational outcome. Previous RCTs showed that the genetics CPD modules achieved sustained improvement of oncogenetic knowledge and consultation skills (3-months follow-up). Participants of these RCTs reported being more aware of genetic problems long term; this was reported by 29 GPs (69%) and 46 GPs (92%) participating in the G-eCPD and live module evaluation studies, respectively (Chisquare test, p<0.005). One year later, 68% of the respondents attending the live training reported that they more frequently referred patients to the clinical genetics centres, compared to 29% of those who attended the online oncogenetics training (Chisquare test, p<0.0005). However, the clinical genetics centres reported no significant change in referral numbers one year after the training. Website visitor numbers increased, as did satisfaction, reflected in a 7.7 and 8.1 (out of 10) global rating of the website (by G-eCPD and live module participants, respectively). The page most often consulted was “family tree drawing”. Self-perceived genetic consultation skills increased long-term and GPs were interested in and satisfied with the supportive website. Further studies are necessary to see whether the oncogenetics CPD modules result in more efficient referral. The results presented suggest we have provided a flexible and effective framework to meet the need for effective educational programmes for non-geneticist healthcare providers, enabling improvement of genetic medical care.     

Instructors' practices in and attitudes toward teaching ethics in the genetics classroom

There is strong consensus among educators that training in the ethical and social consequences of science is necessary for the development of students into the science professionals and well-rounded citizens needed in the future. However, this part of the curriculum is not a major focus of most science departments and it is not clear if, or how, students receive this training. To determine the current status of bioethics education of undergraduate biology students in the United States, we surveyed instructors of introductory genetics. We found that there was support for more ethics education both in the general curriculum and in the genetics classroom than is currently being given. Most instructors devote <5% of class time to ethical and social issues in their genetics courses. The majority feels that this is inadequate treatment of these topics and most cited lack of time as a major reason they were unable to give more attention to bioethics. We believe biology departments should take the responsibility to ensure that their students are receiving a balanced education. Undergraduate students should be adequately trained in ethics either within their science courses or in a specialized course elsewhere in the curriculum.     

高职高专医学遗传学"三联系"教学模式初探

摘要: 根据高职高专教育规律、培养目标, 结合高职高专学制、课时及学生特点, 建立了以遗传病为主线的“教学内容与培养目标相联系, 理论教学与临床应用相联系, 实践教学与职业能力相联系”的“三联系”教学模式。三年的教改实践证明: 此种教学模式定位比较合理, 有助于激发学生的学习兴趣, 提高医学遗传学的综合 成绩。     

Genetics: still a discipline?

In the institutional sense of the term "discipline" (laboratories, societies, congresses, curricula, etc.), genetics remains a discipline. In the intellectual sense of the term (consensus on a definite array of concepts, methods and theoretical purposes), it is doubtful that genetics is still a discipline. At first, molecular biology seemed to have introduced an unequivocal structural (or molecular) definition of the gene: a definite sequence of nucleotides that code for a protein. In fact, as it appears in retrospect, this was not the case. Even in 1961, when Jacob and Monod proposed their first model of genetic regulation in bacteria, there was no possibility of constructing a non equivocal concept of the gene. More recent developments in molecular genetics have made this situation worse. There is no possible definition of the gene as a general category. The reasons why biologists keep the word are pragmatic rather than theoretical: communication among scientists, economic interests and ideology.     

Getting a head start: the importance of personal genetics education in high schools

With advances in sequencing technology, widespread and affordable genome sequencing will soon be a reality. However, studies suggest that "genetic literacy" of the general public is inadequate to prepare our society for this unprecedented access to our genetic information. As the current generation of high school students will come of age in an era when personal genetic information is increasingly utilized in health care, it is of vital importance to ensure these students understand the genetic concepts necessary to make informed medical decisions. These concepts include not only basic scientific knowledge, but also considerations of the ethical, legal, and social issues that will arise in the age of personal genomics. In this article, we review the current state of genetics education, highlight issues that we believe need to be addressed in a comprehensive genetics education curriculum, and describe our education efforts at the Harvard Medical School-based Personal Genetics Education Project.     

Clinician reviewers in birth defects surveillance programs: survey of the National Birth Defects Prevention Network

BACKGROUND: Some birth defects surveillance programs utilize a clinician reviewer ("Clinician") to assist the multidisciplinary staff in the process of case review, coding and classification. The untested assumption is that expertise in the evaluation of individuals with birth defects and genetic syndromes in clinical practice, usually clinical genetics, is useful in reviewing medical records. METHODS: We conducted an exploratory survey of the 50 functioning birth defects surveillance programs that participated in the National Birth Defects Prevention Network in 2004. The survey was mailed electronically to program coordinators and included 10 questions with check-off option replies. Open-ended comments were also solicited. RESULTS: Responses were received from 31 of 50 (62%) programs, 21 (68%) which used a Clinician. In addition to the 9 centers that identified themselves as participants in the National Birth Defects Prevention Study (NBDPS), there were 12 non-NBDPS programs using a Clinician, 2 of whom were not clinical geneticists (1 nurse genetic counselor and 1 primary pediatrician). A total of 86% (18/21) of Clinicians were employed part-time or as consultants; 1 was full-time, and 2 were volunteers. In addition to the core activities of classifying defects and reviewing cases to determine if a syndrome was present, over one-half of the Clinicians participated in education of birth defects surveillance programs staff, research, and program development. Most (86%; 18/21) Clinicians had been trained informally for their roles. Only 1 had received a formal performance review. CONCLUSIONS: Aside from the 9 centers in the NBDPS in which the position of Clinician is funded by the Centers for Disease Control and Prevention (CDC), about one-half of the remaining respondent birth defects surveillance programs used a Clinician. Future research is needed to determine why a birth defects surveillance program hires or refrains from using a Clinician, and whether a Clinician accomplishes the desired goals. This survey reveals a lack of formal training for the Clinicians in their roles in the surveillance programs, and a lack of quality monitors, which might be addressed in the future.