The center-satellite system for the wide-scale distribution of genetic counseling services.

A 6-year experience with a center-satellite system for the provision of comprehensive genetic counseling services to a large geographical area is described. A series of 12 satellite genetic clinics established throughout northern and central California have brought genetic counseling services to within a 2-hour drive for most patients. These satellite clinics are largely organized by local groups (such as National Foundation-March of Dimes chapters and county health departments) but are backed by the personnel and resources of the center at the University of California, San Francisco. Assistance is generally provided by county public health nurses who collect medical records from referring physicians and pedigrees from the family. Specimens for cytogenetic or special biochemical studies are brought back to the center, but, if possible, other laboratory determinations, radiological investigations, and specialty consultations are obtained locally. Follow-up counseling may be provided by the public health nurses, and a written summary is sent to each patient or family. The socioeconomic spectrum of the patients seen at the satellite clinics is much broader than at the central clinic, and the establishment of a satellite clinic results in a great increase in the number of cases seen from the area in which it is located. Physician time per patient and cost of services per patient are substantially the same in both central and satellite clinics. Based on population figures applicable to the state of California, it is estimated that approximately 60-70 comprehensive counseling centers, each with up to 15 satellites, could adequately provide for the foreseeable genetic counseling needs of the United States.     

Genetic Counseling—A Health Department Service to Physicians

Questions about inheritance in all kinds of diseases and defects are commonly asked of nearly all physicians. In attempting to answer these questions, however, the physician is often hampered by lack of formal instruction in clinical genetics.Since the health department, if it is to carry out its epidemiologic function, must be as concerned over the increasing identification of genetic agents in disease as it is and has been over environmental disease agents, it should come to represent a source of assistance not now generally available to the physician. In short, as it carries out those activities by which its store of general genetic information is increased, and until other sources of genetic consultation become reasonably available, the health department can be of real service to physicians as a resource to which they may turn for help when dealing with families wanting genetic information.Such a service has been provided experimentally for the last two years by the Contra Costa County Health Department.This program calls for the taking of family pedigrees by public health nurses on families with questions of a genetic nature who are health department clients and on families who are referred by their private physicians for this service. An interpretation of each pedigree is made by the department''s physician in charge of the program and submitted to the family''s physician for his use in counseling the family. Evidence to date suggests the process can be a highly useful service to the practitioner and his patient.     

Regulation of offspring and the Roman Catholic Church

Abstract

The 1976 enactment of the National Sickle Cell Anemia, Cooley's Anemia, Tay‐Sachs, and Genetic Disease Act may mark the emergence of a national policy on mass genetic screening. The law includes provisions intended to protect persons who are tested for genetic traits in screening programs operated with government funds. Two key features are (1) guaranteed access to competent genetic counseling and (2) strict confidentiality of test results. Because genetic screening will be conducted through state public health departments, I surveyed the states to determine how they were currently providing access to genetic counseling and protection of genetic data. The responses indicated that (1) there is an extreme heterogeneity of counseling services, and (2) that most states have not developed programs to safeguard genetic data.     

Cancer Genetics Education in a Low- to Middle-Income Country: Evaluation of an Interactive Workshop for Clinicians in Kenya

Background

Clinical genetic testing is becoming an integral part of medical care for inherited disorders. While genetic testing and counseling are readily available in high-income countries, in low- and middle-income countries like Kenya genetic testing is limited and genetic counseling is virtually non-existent. Genetic testing is likely to become widespread in Kenya within the next decade, yet there has not been a concomitant increase in genetic counseling resources. To address this gap, we designed an interactive workshop for clinicians in Kenya focused on the genetics of the childhood eye cancer retinoblastoma. The objectives were to increase retinoblastoma genetics knowledge, build genetic counseling skills and increase confidence in those skills.

Methods

The workshop was conducted at the 2013 Kenyan National Retinoblastoma Strategy meeting. It included a retinoblastoma genetics presentation, small group discussion of case studies and genetic counseling role-play. Knowledge was assessed by standardized test, and genetic counseling skills and confidence by questionnaire.

Results

Knowledge increased significantly post-workshop, driven by increased knowledge of retinoblastoma causative genetics. One-year post-workshop, participant knowledge had returned to baseline, indicating that knowledge retention requires more frequent reinforcement. Participants reported feeling more confident discussing genetics with patients, and had integrated more genetic counseling into patient interactions.

Conclusion

A comprehensive retinoblastoma genetics workshop can increase the knowledge and skills necessary for effective retinoblastoma genetic counseling.     

Delivery of molecular genetic services within a health care system: time analysis of the clinical workload. The Molecular Genetic Study Group.

The most recent discoveries in molecular genetics today are rapidly incorporated into clinical practice and have resulted in an unprecedented expansion of medical options. Despite this, the impact of molecular genetics on health care services has yet to be evaluated. In order to begin this assessment, clinical genetic workload was prospectively collected from cases where molecular genetic testing was considered. Participation involved all 16 urban and outreach genetic centers regionalized to service the entire population of 10 million within the Canadian province of Ontario. Molecular genetic testing has been clinically available for > 5 years, as part of a publicly supported genetic network in which there are no direct costs to residents. Cross-sectional data were collected on 1,101 clients from 544 families involving 1,742 clinical actions relating to diseases in which molecular (DNA) tests were considered. Median times per clinical genetic action were as follows: formal counseling (60 min), case review (15 min), phone call (10 min), letter (15 min), specimen arrangement (15 min), and interpretation of molecular test results (10 min). Times varied significantly with the inheritance pattern of the disease, topics involved, and location. For any given genetic case, multiple clinical actions resulted in substantial time spent by the genetic professional. Clerical and administrative times were not captured. Workload unit measurements similar to those currently employed in hospital laboratories may be helpful for predicting the clinical resources and personnel that will be required as the use of molecular genetics by other medical specialties increases.     

Genetic counseling for beta-thalassemia trait following health screening in a health maintenance organization: comparison of programmed and conventional counseling.

Providing adequate counseling of patients identified in genetic screening programs is a major responsibility and expense. Adults in a health maintenance organization, unselected for interest, were screened for beta-thalassemia trait as part of preventive health care. Counseling was provided by either a trained physician (conventional counseling) or by a videotape containing the same information followed by an opportunity to question a trained physician (programmed counseling). Immediately before and after counseling, knowledge of thalassemia, knowledge of genetics, and mood change were assessed by questionnaire. Comparable mood changes and similar learning about thalassemia and genetics occurred with both counseling methods. Thus, as judged by immediate effects on knowledge and mood, videotaped instruction can greatly reduce professional time required for genetic counseling and facilitate the incorporation of genetic screening into primary health care.     

The check-up of reproductive health and genetic counseling.

The Hungarian Family Planning Program was a feasibility study on combining methods of periconceptional care. The first step was the check-up of reproductive health, including family history of the couples, case history of females, pre-pregnancy examination (vaginal and cervical smears), and the measurement of basal body temperature, sperm examination, psycho-sexual exploration and exclusion of some risk factors. This preconception screening program was carried out by graduate trainee nurses to identify those participants secondary health services. The data of 4,240 couples attending in the Budapest Center indicated a useful relationship between the check-up of reproductive health and genetic counseling clinics, by selecting couples requiring genetic counseling and preventing other couples making unnecessary visits.     

Genetic and cellular mechanisms in chromium and nickel carcinogenesis considering epidemiologic findings

Genetic and environmental interactions determine cancer risks but some cancer incidence is primarily a result of inherited genetic deficits alone. Most cancers have an occupational, viral, nutritional, behavioral or iatrogenic etiology. Cancer can sometimes be controlled through broad public health interventions including industrial hygiene and engineering controls. Chromium and nickel are two human carcinogens associated with industrial exposures where public health measures apparently work. Carcinogenic mechanisms of these metals are examined by electron-spin-resonance-spectroscopy and somatic-mutation-and-recombination in Drosophila melanogaster in this report. Both metals primarily affect initiation processes in cancer development suggesting important theoretical approaches to prevention and followup.     

Genetic testing and genetic counseling among medicaid-enrolled children with autism spectrum disorder in 2001 and 2007

The rise in the prevalence of autism spectrum disorder (ASD) has resulted in increased efforts to understand the causes of this complex set of disorders that emerge early in childhood. Although research in this area is underway and yielding useful, but complex information about ASD, guidelines for the use of genetic testing and counseling among children with ASD conflict. The purpose of this study was to determine the frequency of use of genetic testing and counseling before the widespread implementation of clinical chromosomal microarray (CMA) to establish a baseline for the use of both services and to investigate potential disparities in the use of both services among children with ASD. We found that about two-thirds of children with ASD received genetic testing or counseling and the use of both services is increasing with time, even in the pre-CMA era. Being female and having a comorbid intellectual disability diagnosis both increased the likelihood of receiving genetic testing and genetic counseling. Initial discrepancies in the use of both services based on race/ethnicity suggest that troubling disparities observed in other services delivered to children with ASD and other mental health disorders persist in genetic testing and counseling as well. These results should incentivize further investigation of the impact of genetic testing and counseling on children with ASD and their families, and should drive efforts to explore and confront disparities in the delivery of these services, particularly with the advancing scientific research on this topic.     

Evaluation of Genetic Consultations in the public health service

Summary Work of the Genetic Consultation Group at the Institute of Medical Genetics, USSR Academy of Medical Sciences is analyzed and evaluated from the viewpoint of working out organizational principles for counseling. During three years (from July 1973 to June 1976) 1145 families were referred to us, of which 76% were referred by physicians and 24% were self-referrals.Reasons for referral were progeny prognosis (75.7%), health prognosis (1.5%), more precise diagnosis (18.1%), treatment (2.7%), and other reasons (2%). The main cause of referral was birth of a sick child (75%). People seeking advice were divided according to disease group as follows: chromosome diseases and congenital malformations (45.4%), monogenic diseases (15.4%), diseases with hereditary predisposition (14.6%), repeated miscarriages and infertility (11.5%), and others (13.1%).For counseling, 1145 families required additional cytogenetic (987) and biochemical (138) investigations. At evaluation of genetic risk, 16 types of genetic problems were encountered.It was concluded that genetic counseling should be organized firstly in pediatric and obstetric-gynecologic services, both in general and specialized hospitals. To facilitate referrals to the consultation center, spread of genetic knowledge among physicians and the population is necessary. The most effective form of propaganda among physicians is distribution of special literature with a list of indications for referral to consultation centers; most effective among the population are articles in newspapers and magazines.     

Progress of a Comprehensive Familial Cancer Genetic Counseling Program in the Era of BRCA1 and BRCA2

BRCA1 and BRCA2 mutation carriers have an increased risk of developing breast and/or ovarian cancer. Technical advances in genetic testing have increased the need for genetic counseling services; therefore, we have developed a counseling program for these individuals. The purpose of this study is to characterize this population, assess level of interest in genetic testing, and evaluate our program over a 5-year period. Our Familial Cancer Genetic Counseling Program was established in November, 1994. Information was collected prospectively, with comprehensive evaluation including complete pedigree, risk assessment, and counseling by a genetic counselor, geneticist, and oncologist. Data were collected on risk level, and subsequent recommendations for screening and/or genetic testing. There were 824 contacts recorded from November, 1994, through August, 1999. To date, 162 families have undergone comprehensive genetic evaluation and counseling. 90 (56%) were seen for a concerning family history and 72 (44%) were seen due to a personal history of malignancy. The majority of families had a significant level of risk with 126 (78%) families having two and 70 (43%) families having three affected first-degree relatives. Of the 162 families who received full counseling, 125 (77%) met criteria to recommend BRCA1/BRCA2 genetic testing. At this time, 30 of the 162 (18%) have had genetic testing. A brief phone contact or clinic visit is useful to screen individuals so that counseling can be directed toward truly high-risk families. In our program, the majority of families counseled were eligible for BRCA1/BRCA2 testing, but only 18% have elected to proceed at this time.     

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

Abstract

Genetic counseling has evolved from a eugenic orientation to an orientation concerned with the physical and mental well‐being of counselees. This change in genetic counseling, which has received formal recognition in a new definition of genetic counseling, requires collateral development of the processes and evaluation of the outcomes of counseling. This paper offers a theory of genetic counseling which interrelates genetic information, psychological responses, learning theory, and decision‐making. The theory presented for genetic counseling is based on the more general theories of learning, decision‐making, and adaptation to psychological stress. This theory is extended into a practical model that provides a comprehensive explanation of the relationships between the activities of genetic counseling and informed decision‐making, which is assumed to be a major element of healthy counselee adjustment. Implications of this theory for the genetic counselor, the counselee, and the assessment of clinical and program success are discussed.     

Genetic testing for disease susceptibilities: consequences for genetic counseling

The role of genetic counseling in future testing for inherited susceptibilities for common diseases is debated. Currently, genetic testing, ideally supported by genetic counseling, is most often used to modify the assessment of genetic risk of Mendelian-inherited disease in high-risk individuals for the purpose of personal decision-making. By contrast, it is anticipated that genetic testing will be used to identify increased disease susceptibility in low-risk individuals for the purpose of instituting medical or lifestyle interventions to modify risk for future disease.     

Does genetic counseling have any impact on management of breast cancer risk?

Despite there being an increasing literature on the impact of cancer genetic counseling on risk perception and mental health, there is a lack of data describing impact on risk management. Genetic counseling and testing for cancer predisposition genes aims to improve the future health of those at high risk through appropriate surveillance and screening. However, management of breast cancer risk in women with a family history of this disease is an area of controversy. Counseling services may recommend specific risk management options to women, who then rely on their local screening service to make provision. This study investigated the impact of genetic counseling on management of breast cancer risk in women attending Cancer Family Clinics. A total of 293 women attending four genetic clinics were enrolled. Rates of breast self-examination, clinical breast examination, mammography, biopsy, detected cancers, and other screenings were documented. Participants' perceived benefits and barriers to mammography were assessed along with cancer worry. Results show that rates of mammography, clinical breast examination, and breast self-examination were increased following clinic attendance (p < 0.001). Women in the under 35 age-group had limited access to screening. Rates for biopsy and detected cancers were low. Women reported positive attitudes to mammography, with few reported barriers. Contrary to previous studies, there was no evidence that anxiety about breast cancer impedes uptake of health surveillance methods. Genetic counseling had a positive impact on management of breast cancer risk. Whether this translates into future health gains remains to be established.     

Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective,Longitudinal Study

Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants'' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients'' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results.     

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.     

Focus Group Evaluation of Night Nurse Shiftwork Difficulties and Coping Strategies

Focus group interviews were performed on 45 intensive care nurses who worked 12-h shifts in a large metropolitan hospital. The purpose of this study was to identify nurses' perceptions of difficulties associated with shiftwork and coping strategies used to combat them. Overall, the findings were not different than those currently discussed in the literature. For example, nurses frequently utilized white noise, telephone answering machines, and light-darkening shades to improve the quality and quantity of day sleep. They also used exercise and increased early shift caffeine consumption to improve night work performance. However, the major incentive for performing night work for these nurses was a high shift differential that equaled approximately 20% of their hourly salary. Most nurses also felt that group educational interventions regarding shiftwork difficulties and coping strategies would be preferred to individual counseling. The most significant finding of this study was the discovery of an extremely high incidence (95%) of automobile-related injuries and near-accidents that occurred while driving to and from the workplace, potentially posing a significant public health risk. (Chronobiology International, 13(6), 457-463, 1996)     

Genetic counseling in the epilepsies

Summary Rules are proposed for genetic counseling in the epilepsics. In a first section, some attempts at subdividing epilepsies by dichotomous classifications are discussed critically. Then, the typical EEG patterns found in epileptic diseases as well as their genetic bases are described. The third section comprises various clearly defined and sufficiently well-described epileptic syndromes. In a fourth section, a kind of record sheet is suggested to help the genetic counselor in planning his procedure. Throughout this review, we have stressed that genetic counseling in the epilepsies should not be confined to risk assessment but should include considerations on course of the disease, prognosis, and chances of therapy.     

The delivery of genetic counseling services in Europe

Summary Oranizational forms and the current status of genetic counseling within the health care system of 15 European countries were evaluated by questionnaire and at a symposium, with individuals present from Austria, Belgium, Czechoslovakia, Denmark, the Federal Republic of Germany, the German Democratic Republic, Finland, France, Hungary, Italy, the Netherlands, Norway, Switzerland, the United Kingdom, and the Soviet Union. In spite of wide differences between these countries, certain similarities with respect to the delivery of genetic counseling services could be observed: (i) most genetic counseling is done within university institutions or closely linked to it; (ii) governmental support of genetic counseling is developing slowly, and genetic counseling is usually not yet fully integrated into the health care system; (iii) there is lack of qualified personnel; (iv) no guide lines for formal education have been developed, but a postgraduate training period of no less than four years is considered a minimum; (v) without appropriate support, genetic counseling is a burden for research in human genetics; yet, a strict separation of genetic counseling and research activities is not recommended; (vi) on the average, a team providing genetic counseling for about 1–2 million people should consist of 3–4 physicians, 5–10 technicians, 2–3 secretaries, and other supportive personnel.This study was supported in part by the Deutsche Forschungsgeneinschaft     

School nurses as volunteers in a bioterrorism event

Most public health departments do not have enough public health nurses to adequately respond to a bioterrorist attack or other large-scale health emergency and would need to look to volunteers to help with staffing needs in an emergency. The National Association of School Nurses supports the use of school nurses, a skilled workforce, as responders in a mass casualty event, whether it is naturally occurring or as a result of bioterrorism. This article explores the use of school nurses to supplement public health staff during an emergency. A Likert-scale survey was used to assess the preparedness and willingness of school nurses to respond to a health threat. Although school nurses are willing to respond, the findings highlight the importance of continued education on risk and personal protection.