Genetic screening and genetic counseling: knowledge, attitudes, and practices in two groups of family planning professionals.

67 obstetrical and gynecological physicians and 102 professional staff members of family planning clinics (FPCs) in the Pittsburgh, Pennsylvania, area returned questionnaires relating to knowledge of basic genetic principles and attitudes towards genetic screening and genetic counseling. The best understood genetic risk was Down's syndrome in children born to mothers over 40 years of age. Nearly 90% of physicians and 85% of FPC staff knew this but only 12% of physicians and 30% of FPC staff knew it is caused by chromosomal aberration. Next best understood defect is sickle cell anemia. In overall knowledge the physicians had a mean score of 4.45 of 7 genetic questions, FPC staff, 3.32. However, FPC workers who had received in-service genetic training scored 4.42 (p less than .001). Knowledge of the 2 genetic clinics in the area and acceptance of the principles of genetic screening were associated with the individual's acceptance of sterilization as a method of birth control and acceptance of abortion if the fetus had significant risk of being born deformed. Both of these associations were at the significant level for both physicians and FPC workers. Both physicians and FPC workers who have themselves had genetic counseling or who have family members who have had such counseling show higher acceptance levels. An association was also found between acceptance and genetic educational background. About 92% of respondents who had read articles or textbooks pertaining to genetics during the preceding year approved of including genetic information as part of maternal and child health projects compared with 82% of those who had not (p less than .02). Among the physicians 36% felt it should be required, 34% voluntary, and 30% did not know; for FPC workers, 59, 27, and 14%, respectively. Protestants and Jews tended to favor required premarital screening while Catholics tended to oppose it (p less than .007). It is disconcerting that over 50% of the physicians did not know the recurrence risk of PKU and over 20% did not know the gene is the basic unit of inheritance. While it is true that over 1/2 completed basic professional education more than 20 years ago when genetics was not part of the medical school curriculums this basic knowledge needs to have been acquired during continuing medical education. In this study more than 1/3 of the FPC staff indicated they had been asked to provide genetic counseling or had referred clients. This points up the importance of such workers in a comprehensive genetic counseling service.     

Creating a comprehensive training documentation program

The regulations mandate that individuals involved in research animal care and use receive adequate training, but they fail to address the documentation of the training. The authors provide guidelines for training documentation and, as an example, describe the program in place at the University of Pennsylvania.     

Report of the 1989 Asilomar meeting on education in genetic counseling.

In September, 1989, 35 individuals representing training programs for genetic counselors and genetic nurse specialists, the Education Committee of the National Society of Genetic Counselors (NSGC), and others with interest and expertise in genetic counselor education met at Asilomar, CA. The purpose of this meeting was to reevaluate training program curricula, both didactic and experiential; to discuss the need for and desirability of advanced graduate education in genetic counseling; and to consider whether alternatives to master's-level training are needed to overcome a growing manpower shortage in the provision of genetics services. This article summarizes recommendations for master's-level training curricula, reviews options and implications for post-master's genetic counselor education, and examines issues related to training for people without a master's degree who also provide patient and community genetics education.     

widgetcon: A website and program for quick conversion among common population genetic data formats

One of the most tedious steps in genetic data analyses is the reformatting data generated with one program for use with other applications. This conversion is necessary because comprehensive evaluation of the data may be based on different algorithms included in diverse software, each requiring a distinct input format. A platform‐independent and freely available program or a web‐based tool dedicated to such reformatting can save time and efforts in data processing. Here, we report widgetcon , a website and a program which has been developed to quickly and easily convert among various molecular data formats commonly used in phylogenetic analysis, population genetics, and other fields. The web‐based service is available at https://www.widgetcon.net . The program and the website convert the major data formats in four basic steps in less than a minute. The resource will be a useful tool for the research community and can be updated to include more formats and features in the future.     

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.     

An economic evaluation of a genetic screening program for Tay-Sachs disease.

The resolution of policy questions relating to medical genetic screening programs will not be without considerable difficulty. Examples include such issues as the optimal degree of screening program expansion, the relative values of screening for different genetic diseases, the appropriate sources of program funding (public vs. private), and the relative value of funding expanded genetic screening programs vs. research directed toward elimination of genetic traits themselves. Information on the net impact of the relevant alternatives is greatly needed, and this need will increase if the National Genetics Act receives funding approval. We have provided what is hopefully a contribution toward this end. While our analysis pertains to a specific disease and a specific screening program for that disease, the methodology is readily generalizable to other genetic diseases, as well as programs of any size or structure. Hopefully, this will serve to stimulate further research efforts that we believe are needed for the objective consideration of resource allocation alternatives.     

Residency training in internal medicine: program design in an era of constraint.

Directors of postgraduate internal medicine programs face many problems in program design, particularly when numbers of house staff continue to decrease. This paper examines the training requirements of a resident in internal medicine and proposes a curriculum based on set rotations in the three key areas of training--subspecialty services, critical care and the clinical teaching unit. The distribution of time in these three areas and the balance of exposure to inpatients and outpatients are discussed in detail. This program design ensures exposure to all the key elements of internal medicine in 3 years and should prevent significant gaps in knowledge at the time of certification. The implications for "service" in major teaching hospitals is discussed. Hospital departments and administrators must confront the prospect of hospital units without house staff. Most important, program directors must resist sacrificing the pedagogic essentials of a training program for service requirements.     

Hemoglobin E disorder: Newborn screening program

Hemoglobin E (Hb E) disorder is an important kind of hemoglobinopathy. It can be seen around the world with the highest prevalence in Southeast Asia. The screening for this disorder becomes the public health policies in many countries. The screening can be performed in several population groups. The newborn screening program for Hb E disorder is an important issue in pediatric genetics. In this brief review, the author discusses on important laboratory tests for screening for Hb E disorder in newborn.     

Likelihood of attending bowel screening after a negative genetic test result: the possible influence of health professionals

This study was undertaken to determine the extent to which the reported likelihood of attending future bowel screening following negative genetic testing results for familial adenomatous polyposis (FAP) varies between the type of health professional providing care and the country of testing. The study subjects were 103 unaffected adults at risk for FAP who received negative results following predictive DNA testing. Our study indicates that the reported likelihood of attending bowel screening was higher in those given results by nongenetics physicians, rather than by genetics professionals; the reported likelihood of attending bowel screening under these circumstances was also higher in the UK than in Australia. Both of these results were affected by the perceived chances of developing FAP, and, in the case of the country of testing, by the perceived accuracy of the genetic test result and the perceived seriousness of the disease. How and what health professionals communicate with patients about genetic testing may explain the differences between type of health professional and country of testing and attitudes toward bowel screening. If this is the case, training in communication may change patients' perceptions and, in turn, their behavioral intentions and actions following a negative test result.     

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.     

Knowledge of genetics among residents in obstetrics and gynecology.

A supervised genetics examination was administered to 76 obstetrics and gynecology (ob/gyn) residents from 15 different institutions in the Philadelphia area. The questions were specifically designed to be applicable to obstetrical practice. Overall, the mean score was 69% (range 32%-88%). Using the nonparametric Mann-Whitney rank sum test, we found that the 25 residents from institutions with an obstetrics-gynecology-genetics (OGG) program, coordinated by an obstetrician/gynecologist board certified in clinical genetics, had statistically significant higher scores than the remaining 51 residents from institutions without an OGG program (77% vs. 65%, respectively; P < .001). This study demonstrates that knowledge of genetics among residents in ob/gyn is deficient, especially among residents at institutions without OGG programs. Special efforts should be made to provide genetics education to these individuals. We propose that more obstetricians be encouraged to pursue postgraduate training in genetics in light of the rapid development of medical genetics; its application to prenatal screening, diagnosis, and counseling; the anticipated utilization of genetics services; and the need for educational initiatives geared toward ob/gyn patients.     

Reinventing quantitative genetics for plant breeding: something old,something new,something borrowed,something BLUE

The goals of quantitative genetics differ according to its field of application. In plant breeding, the main focus of quantitative genetics is on identifying candidates with the best genotypic value for a target population of environments. Keeping quantitative genetics current requires keeping old concepts that remain useful, letting go of what has become archaic, and introducing new concepts and methods that support contemporary breeding. The core concept of continuous variation being due to multiple Mendelian loci remains unchanged. Because the entirety of germplasm available in a breeding program is not in Hardy–Weinberg equilibrium, classical concepts that assume random mating, such as the average effect of an allele and additive variance, need to be retired in plant breeding. Doing so is feasible because with molecular markers, mixed-model approaches that require minimal genetic assumptions can be used for best linear unbiased estimation (BLUE) and prediction. Plant breeding would benefit from borrowing approaches found useful in other disciplines. Examples include reliability as a new measure of the influence of genetic versus nongenetic effects, and operations research and simulation approaches for designing breeding programs. The genetic entities in such simulations should not be generic but should be represented by the pedigrees, marker data, and phenotypic data for the actual germplasm in a breeding program. Over the years, quantitative genetics in plant breeding has become increasingly empirical and computational and less grounded in theory. This trend will continue as the amount and types of data available in a breeding program increase.Subject terms: Plant sciences, Genetics     

The use of SNP markers for estimation of individual genetic predisposition to diabetes mellitus type 1 and 2

Single nucleotide polymorphisms (SNPs) are now considered as the most perspective and convenient markers for studies of genetic basis of multifactorial diseases. Fast development of technologies for exact screening of a large volume of genetic information and construction of genomic maps of SNP-markers promote the development of innovative diagnostic systems on the basis of significant SNP for an estimation of individual genetic risk of development of various diseases. This review considers the basic aspects of genetics of diabetes mellitus type 1 and 2 and an opportunity to use SNP as markers for the estimation of individual genetic predisposition to this disease.     

An integrated biochemistry and genetics outreach program designed for elementary school students

Exposure to genetic and biochemical experiments typically occurs late in one's academic career. By the time students have the opportunity to select specialized courses in these areas, many have already developed negative attitudes toward the sciences. Given little or no direct experience with the fields of genetics and biochemistry, it is likely that many young people rule these out as potential areas of study or career path. To address this problem, we developed a 7-week (~1 hr/week) hands-on course to introduce fifth grade students to basic concepts in genetics and biochemistry. These young students performed a series of investigations (ranging from examining phenotypic variation, in vitro enzymatic assays, and yeast genetic experiments) to explore scientific reasoning through direct experimentation. Despite the challenging material, the vast majority of students successfully completed each experiment, and most students reported that the experience increased their interest in science. Additionally, the experiments within the 7-week program are easily performed by instructors with basic skills in biological sciences. As such, this program can be implemented by others motivated to achieve a broader impact by increasing the accessibility of their university and communicating to a young audience a positive impression of the sciences and the potential for science as a career.     

“973”项目“农林危险生物入侵机理与控制基础研究”简介

2002年12月,国家重点基础研究发展计划("973"项目)"农林危险生物入侵机理与控制基础研究"经科技部批准正式立项,2003年启动。文章主要介绍该项目的立项背景、主要研究内容、研究方案和技术路线、总体研究目标及研究进展。     

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.     

Review of evolution of clinical,training and educational services and research program for autism spectrum disorders in Hong Kong

The evolution of a local fragmented model of services for children with autism in Hong Kong emerged gradually over the past three decades with lack of government funding or support. This had been due to increasing number of children with autism being detected and referred for earlier assessment. With increasing pressure from parents due to long waiting time for assessment and training services and the increasing polarization by mass media there had been a gradual increasing public awareness over the past five years. Though still highly fragmented in the availability of services, there is a growing "business model" available in the community due to increasing need and lack of public funding for support. There is a lack of strategic planning for medical diagnostic and management issues in Hong Kong. Our University of Hong Kong based Autism Research Program was pioneered in 1985 based on the increasing load of autism cases referred for assessment for other developmental problems and diagnosed as Autism in the Duchess of Kent Children's Hospital. As the first author has been the staff of the University of Hong Kong, this program flourished as a research based program. The benefits of early identification and intervention of autism spectrum disorder(ASD) had been increasingly recognized, and with the increased public awareness and increasing trend of earlier diagnosis, there has been a continuously high demand from parents for earlier assessment and training for children suspected to have ASD. This model had not received extra funding for this integrated program for research, teaching and training in autism. We had to apply for various donations and grants to support the development of this pioneer program. The research output and organization of forums for public education and awareness are reviewed. The latter part of the paper reports the summary of clinical profile of autism cases(N=1441) assessed from 1985 to 2010 June under the University of Hong Kong. As the waiting time for initial developmental assessment for any children in Hong Kong is 12?24 months, we also report our preliminary experience with a newly launched triaging service provision for children suspected to be ASD since 2009, including multi-disciplinary assessment and parallel interim training in our university affiliated child assessment centre in Hong(N=89).     

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.     

"Fewer children, better life" or "as many as God wants"? Family planning among low-income Iranian and Afghan refugee families in Isfahan, Iran

In the West it is often assumed that religion (esp. Islam) and contraception are mutually exclusive. Yet, the Islamic Republic of Iran has one of the most successful family-planning programs in the developing world, and is often looked to as a potential model for other Muslim countries. Although Iran's family-planning program has been extremely successful among Iranians, it has been far less successful among Afghan refugees and other ethnic groups. Afghans and Iranians both seek services in Iran's public health sector for family health care, treatment of infectious disease, and childhood vaccinations. On these occasions, all adult married patients are strongly encouraged to use family planning to reduce the number of offspring. In this article, we explore how Iran's family-planning program is differentially perceived and utilized among low-income Iranian and Afghan refugee families in rural and urban locations. Particular attention is given to how different interpretations of Islam may or may not influence reproductive health-related behaviors and how cultural factors influence reproductive strategies.     

Genetic diversity among alfalfa (Medicago sativa) cultivars coming from a breeding program, using SSR markers

Alfalfa (Medicago sativa) is an autotetraploid, allogamous and heterozygous species whose cultivars are synthetic populations. The breeders apply selection pressure for some agronomic traits within a breeding pool to increase the frequency of favorable individuals. The objective of this study was to investigate the differentiation level among seven cultivars originating from one breeding program, and between these cultivars and the breeding pool, with eight SSR markers. These highly polymorphic and codominant markers, together with recent population genetic statistics extended to autotetraploids, offer tools to analyse genetic diversity in alfalfa. The number of alleles per locus varied between 3 and 24. All loci were at a panmictic equilibrium in the cultivars, except one, probably because of null alleles. With seven SSR loci, each cultivar was at panmictic equilibrium. The mean gene diversity was high, ranging from 0.665 to 0.717 in the cultivars. The parameter F _ST indicated a low but significant diversity among cultivars. Among 21 pairs of cultivars, 15 were significantly different. The breeding pool also had a high diversity, and was significantly different from each cultivar except the most recent one. Considering the characteristics of the breeding program and the mode of cultivar elaboration, we found that they were unable to generate a large variety differentiation. Estimation of population genetics parameters at SSR loci can be applied for assessing the differences between cultivars or populations, either for variety distinction or the management of genetic resources.