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.     

Parental attitudes toward genetic testing for pediatric deafness

Recent molecular genetic advances have resulted in genetic testing becoming an option for deaf individuals and their families. However, there is little information about the interest in such testing. To investigate this issue, parents with normal hearing who have one or more deaf children were surveyed about their attitudes toward diagnostic, carrier, and prenatal genetic testing for deafness. This population was chosen because it represents the majority of individuals who are encountered in clinical practice, given that 90%-95% of deaf individuals are born to persons with normal hearing. Of 328 surveys distributed, 96 were completed and returned. Of the respondents, 96% recorded a positive attitude toward genetic testing for deafness, including prenatal testing, although none would use this information to terminate an affected pregnancy. All respondents had a poor understanding of genetics, with 98% both incorrectly estimating the recurrence risk of deafness and misunderstanding the concept of inheritance. Notably, these findings were similar in the group who had had genetic testing for their children and in the group who had not, suggesting either that the parents who received genetic testing did not receive genetic counseling or that the counseling was not effective. On the basis of these results, it was concluded that this population is interested in the use of genetic testing and that testing should not be done without first providing formal genetic counseling. Appropriate counseling can help parents to understand the risks, benefits, and limitations of genetic testing.     

Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations

BACKGROUND: Uptake of genetic testing remains low, even in families with known BRCA1 and BRCA2 (BRCA1/2) mutations, despite effective interventions to reduce risk. We report disclosure and uptake patterns by BRCA1/2-positive individuals to at-risk relatives, in the setting of no-cost genetic counseling and testing. METHODS: Relatives of BRCA1/2-positive individuals were offered cost-free and confidential genetic counseling and testing. If positive for a BRCA1/2 mutation, participants were eligible to complete a survey about their disclosure of mutation status and the subsequent uptake of genetic testing by at-risk family members. RESULTS: One hundred and fifteen of 142 eligible individuals responded to the survey (81%). Eighty-eight (77%) of those surveyed disclosed results to all at-risk relatives. Disclosure to first-degree relatives (FDRs) was higher than to second-degree relatives (SDRs) and third-degree relatives (TDR) (95% vs. 78%; p < 0.01). Disclosure rates to male versus female relatives were similar, but reported completion of genetic testing was higher among female versus male FDRs (73% vs. 49%; p < 0.01) and SDRs (68% vs. 43%; p < 0.01), and among members of maternal versus paternal lineages (63% vs. 0%; p < 0.01). Men were more likely than women to express general difficulty discussing positive BCRA1/2 results with at-risk family members (90% vs. 70%; p = 0.03), while women reported more emotional distress associated with disclosure than men (48% vs. 13%; p < 0.01). DISCUSSION: We report a very high rate of disclosure of genetic testing information to at-risk relatives. However, uptake of genetic testing among at-risk individuals was low despite cost-free testing services, particularly in men, SDRs, and members of paternal lineages. The complete lack of testing among paternally related at-risk individuals and the lower testing uptake among men signify a significant barrier to testing and a challenge for genetic counselors and physicians working with high-risk groups. Further research is necessary to ensure that family members understand their risk and the potential benefits of genetic counseling.     

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.     

Genotype-based screening for hereditary hemochromatosis: II. Attitudes toward genetic testing and psychosocial impact--a report from a German pilot study

In collaboration with the German Sickness Fund (Kaufm?nnische Krankenkasse-KKH), we conducted a pilot study on DNA-based population screening of hereditary hemochromatosis (HH) in Germany. The health insurance organization KKH briefly informed their members about the possibility to participate voluntarily in this pilot project. A total of 5882 KKH members contacted us and received detailed information on the aim of the project and clinical and genetic aspects of HH. Of these individuals, 3961 requested HFE genotyping. After genotype results had been communicated to the participants' general practitioner, we sent a self-administered questionnaire to all homozygous (n = 67) and heterozygous (n = 485) as well as 448 wild-type study participants (sigma = 1000) to assess the psychosocial impact of HFE genotyping. In addition, questionnaires were sent to 8000 randomly selected members of the KKH to investigate their attitude toward genetic testing. Six hundred thirty-one (63.1%) of the test participants and 2141 (26.8%) of the randomly chosen KKH members responded. A total of 59.1% of the members would generally accept predictive genetic testing and 3.7% objected to such tests in principle. Individuals with higher educational status accepted predictive testing significantly more often than individuals with less education. Of the tested individuals, 69.9% thought that participation in the pilot study was probably beneficial for them and 1% (5 heterozygotes and 1 wild-type) thought that it was probably harmful. Of the participants, 94.6% judged their decision to have participated in the pilot study as right and 0.3% (2 heterozygotes) as probably wrong. Only very few of the tested individuals underwent pretest (1 case) or posttest (11 cases) genetic counseling. We conclude that genotype- based screening for HH is generally accepted and was perceived as beneficial. Negative psychosocial consequences are rare and could presumably have been prevented by delivering appropriate pretest and posttest information.     

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Attitudes of genetic counselors: a multinational survey.

Of 1,053 medical geneticists in 18 nations 677 (64%) returned questionnaires on their views on the importance of seven goals of genetic counseling, the appropriateness of five directive/nondirective approaches to counseling, and their choices of action in four situations involving directive/nondirective counseling. The majority (92%-94%) regarded nondirective approaches as appropriate; their views on both goals and approaches were similar to those reported in an earlier survey of 205 genetic counselors in the United States. In clinical situations involving presentation of reproductive options to carriers of disorders not diagnosable prenatally, 74%-85% would present contraception, sterilization, taking one's chances, artificial insemination donor (AID), or adoption as options even if not asked; 66% would present in vitro fertilization (IVF) with a donor egg; and 46% (67% in the United States) would present surrogate motherhood. In regard to three situations involving fetuses with low-burden disorders (Turner syndrome, XYY, and a possible small neural tube defect), 84%-88% would counsel nondirectively. Stepwise logistic regression analyses on professional and personal background variables showed that gender was related, cross-nationally, to self-reported directiveness in counseling, with men more likely than women to regard directive approaches as appropriate, more likely to give advice about fetuses with low-burden disorders, and more likely to present either IVF with donor egg or surrogate motherhood as options. Social and ethical implications of this widespread acceptance of nondirective counseling are discussed.     

Attitudes toward genetic testing in patients at risk for HNPCC/FAP and the German population

Adequate knowledge regarding hereditary diseases and genetics, as well as personal attitudes toward gene tests, are major determinants of optimal utilization of genetic testing. In the present study, we aimed to explore the general attitudes toward genetic testing in a sample representative of the German general population (n = 2,076) and to compare the attitudes of persons at risk for hereditary non-polyposis colorectal cancer/familial adenomatous polyposis (HNPCC/FAP) (n = 36) who had attended a university genetic counseling service, with a matched general population sample. We administered a subset of a questionnaire previously used in a Finnish study (Jallinoja et al., 1998). The 12 statements pertain to approval, disapproval, and concern for genetic testing. Overall, the results reveal high approval of genetic testing in the German population and in at-risk persons. In accordance with other studies, we find that the attitudes of individuals for whom hereditary disease is a salient issue of personal relevance and the attitudes of the general public are very similar. Only a few significant differences between these two samples emerged, indicating that at-risk persons hold a more favourable view of the testing. One intriguing finding was the high rate of "don't know" responses, especially in the general population sample. Compared to results from Finland, approval of genetic testing is lower in the German population, and endorsement of "don't knows" is remarkably higher. We argue for increased attention to the issue of attitude change after genetic counseling and for the need of comparative cross-cultural research on attitudes toward gene technology.     

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.     

Involvement of rabbis in counseling and referral for genetic conditions: results of a survey.

Members of the New York Board of Rabbis were surveyed in the summer of 1991 to assess their activity in counseling congregants on issues related to genetics. Of a sample of 257 members, 181 (70.4%) responded to the questionnaire, and 175 of the responses were analyzed. More than half (56.0%) of the rabbis discussed health issues as a routine part of premarital counseling, and 22.3% had counseled a couple after prenatal diagnosis of an abnormal fetus. Orthodox rabbis were more likely than rabbis from other branches of Judaism to have contacted medical personnel in these cases, and they reported more involvement in helping families after the birth of a child with a hereditary condition or birth defect. However, a majority (90.9%) of rabbis from all branches would refer such a family for genetic counseling. Ninety-four rabbis (53.7%) discussed Tay-Sachs carrier testing with congregants. These rabbis tended to be Reform, to be younger, and to have fewer years in the rabbinate. Reform rabbis also scored significantly higher than did Orthodox or Conservative rabbis on knowledge questions about Jewish genetic diseases and were more active in distributing pertinent literature to congregants. Even though nearly 90% of the sample viewed counseling on genetic issues as part of their rabbinical role, most rabbis, even those who actually counseled on these issues, felt poorly prepared to do so. Recommendations are made for increased programming in rabbinical schools and for outreach from the genetics community.     

Periodical abstracts

Abstract

This research analyzed physicians’ attitudes toward and use of genetic counseling. Data were obtained through mailed questionnaires sent to all 445 general and family practitioners, pediatricians, and obstetrician‐gynecologists in private practice and involved in direct patient care in Maricopa and Pima Counties, Arizona. Results indicated strong attitudinal support for genetic counseling. Almost all respondents felt that it was a useful and necessary medical service, and most felt that it resulted in more responsible patient decisions. Actual genetic counseling by physicians was comparatively rare, however. The data suggested that the paucity of counseling may have derived from a lack of training in genetics, scarcity of patient requests, and legal naïveté. Genetic counseling, amniocentesis, and abortion received the most support from younger physicians, obstetrician‐gynecologists, and those who were Jewish, less religious, and had few or no children.     

Information needs of mothers regarding communicating BRCA1/2 cancer genetic test results to their children

Mothers who participate in genetic testing for hereditary breast/ovarian cancer risk must decide if, when, and how to ultimately share their BRCA1 and BRCA2 (BRCA1/2) test results with their minor-age children. One of the primary aides for mothers in making this decision is cancer genetic counseling. However, counseling is limited in how well it can educate mothers about such decisions without the availability of resources that are specific to family communication and genetic testing per se. In an effort to fill this gap and identify mothers most likely to benefit from such resources, surveys were conducted with 187 mothers undergoing BRCA1/2 testing who had children 8-21 years old. Data were collected weeks after genetic testing but prior to mothers' learning of their test results; quantitative assessments of informational resource needs (i.e., speaking with previous BRCA1/2 testing participants who are parents regarding their experiences, reading educational literature about options and what to expect, speaking with a family counselor, attending a family support group, and self-nominated other resources), testing motivations, decision making vigilance, and decisional conflict regarding communicating test results to children were included. Mothers' most-to-least frequently cited information resource needs were: literature (93.4%), family counseling (85.8%), prior participants (79.0%), support groups (53.9%), and other (28.9%; e.g., pediatricians and psychologists). Seventy-eight percent of mothers were interested in accessing three or more resources. In multivariate regression analyses, testing motivations (beta = 0.35, p = 0.03), decision-making vigilance (beta = 0.16, p = 0.00), and decisional conflict (beta = 0.10, p = 0.00) were associated with mothers' need level; mothers with a greater interest in testing to learn about their children's risks, those with more vigilant decision-making styles, and those with higher decisional conflict had the greatest need. In conjunction with enhanced genetic counseling focusing on family disclosure, educational literature, and psychosocial support may promote improved outcomes.     

Attitudes toward genetic testing for cancer risk after genetic counseling and decision support: a qualitative comparison between hereditary cancer types

This study aimed to qualitatively assess individuals' attitudes toward genetic testing for cancer risk after genetic counseling and decision support. As part of a larger study, 78 women considering genetic testing for hereditary breast/ovarian cancer (HBOC) risk and 22 individuals considering genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC) completed an open-ended table of their perceived pros and cons of genetic testing. The most frequently reported pros were "to help manage my risk of developing cancer," "to help my family," and "to know my cancer risk." With regards to risk management, the HBOC group perceived genetic testing as most helpful in informing their general risk management practices, while the HN-PCC group focused on the potential to clarify their need for bowel cancer screening, suggesting that patients' perceptions of the benefits of genetic testing may differ across cancer syndromes. Individuals in both groups expressed concern about the potential psychological impact of genetic testing. We also found that some affected individuals may not fully comprehend the meaning of their potential test results. Eliciting patients' perceived pros and cons during genetic counseling is likely to be a valuable tool for improving patient care. This data also provides an improved evidence base for the development of patient education tools.     

Genetic support groups in the delivery of comprehensive genetic services.

This research sought information about the services provided by genetic support groups, their members' experiences in obtaining genetic and related services, and members' recommendations for improving services. Results from a survey of 43 directors of genetic support groups showed that these organizations not only provide their members with a wide range of informational and supportive services but also address the need for education of both the public and health professionals about genetic disorders. A second survey of 931 members of genetic support groups found that, although they obtained genetic information from a variety of professional and informal sources, many of them experienced barriers to obtaining sufficient genetic information. Respondents called for professionals to improve their interpersonal skills in working with clients and to assist families in obtaining a wider variety of services. On the basis of these findings, a service model and priorities are proposed to bring together genetic specialists, community professionals, and genetic support groups for the delivery of comprehensive services to individuals and families with genetic disorders.     

A study of physician attitude on biofeedback

A study of physician attitudes on biofeedback was conducted among members of the Harris County Medical Society, Harris County, Texas. The sample was drawn to match the proportionate representation in the society by speciality. Findings indicated that over 62% of the respondents had little knowledge of biofeedback, over 86% did not use biofeedback in their practice, 21.7% referred patients for biofeedback, and 47.1% were undecided whether insurance coverage should be provided. For specific disorders, adjunct treatment was the most recommended category for migraine and muscle contraction headaches, relaxation training for anxiety and tension, pain management, and essential hypertension. Responses were also analyzed by speciality category.     

Linkage disequilibrium, cystic fibrosis, and genetic counseling.

Strong linkage disequilibrium occurs between the cystic fibrosis (CF) locus and polymorphisms detected with the DNA probes XV-2c and KM-19. In a North American population, 86% of CF chromosomes occur with a haplotype which occurs on only 14% of normal chromosomes. An individual homozygous for the highest-risk haplotype has an 81-fold greater probability of carrying a CF allele than does an individual homozygous for the lowest-risk haplotype. The linkage-disequilibrium data can be used for prenatal diagnosis and genetic counseling in CF families. The data are useful in 1-in-4-risk pregnancies when DNA is not available from the propositus and in counseling close relatives of CF families. Serious problems arise with some pregnancies which remain at intermediate risks after analysis, and families are left with difficult decisions. It is not clear that genetic testing for couples at less than 1-in-4 risk is cost-effective or standard care, but use of linkage-disequilibrium data will provide more accurate risk probabilities in a substantial proportion of cases if such testing is carried out. Our results emphasize the need for a specific biological or molecular carrier test. This experience in using linkage-disequilibrium and linkage data in combination for genetic counseling provides a model system for the diagnosis of other disorders.     

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.     

Professional and personal attitudes about access and confidentiality in the genetic testing of children: a pilot study

The ability to perform predictive genetic testing of children raises ethical concerns regarding whether and when to test and the disclosure of results. Semi-structured interviews with a convenience sample of pediatricians (12) and geneticists (13) were conducted to see how they would react to parental requests for predictive genetic testing of their children, and their attitudes about testing their own children. We also asked about disclosure attitudes and practices for their patients' relatives and within their own families. Respondents would provide predictive genetic testing for most conditions, yet were less likely to seek this information about their own children. Respondents believed it was very important for patients to share some types of genetic information with relatives, and were directive in their counseling about intrafamilial disclosure, especially within their own families. Although respondents would almost never breach patient confidentiality, many would breach confidentiality within their own families. Health care professionals distinguish between their professional and personal roles with regard to issues of access and confidentiality in predictive testing of children. They are willing to provide greater access and more confidentiality for their patients than within their own families.     

Impact of genetic counseling and testing on colorectal cancer screening behavior

One goal of cancer genetic counseling is to improve early detection and prevention of cancers by identifying individuals at risk and providing screening recommendations. This study determined the impact of genetic counseling and testing on patient's post-genetic risk assessment colorectal cancer screening behaviors. Follow-up data from patients seen August, 1996, through May, 1998, at the Johns Hopkins Cancer Risk Assessment Clinic were analyzed. Eligible patients included those without cancer who were due for a colon examination by the time of follow-up, based on recommendations given during genetic risk assessment (GRA). We analyzed the role of gender, age, time since GRA, prior screening, genetic testing decision, mutation status, and post-GRA screening. Of 65 patients evaluated, 50 (76.9%) had undergone at least one endoscopic colon exam prior to visiting the Cancer Risk Assessment Clinic. At the time of GRA, 37 of 65 (56.9%) were overdue for a colon exam and at the time of follow-up, 15/65 (23.1%) were past due (p < 0.001). Patients with mutation-positive genetic tests were more likely to adhere to screening guidelines than those with negative gene tests (100% vs. 40.5%, p = 0.05). Genetic counseling and testing increases overall patient adherence with recommended colon screening, especially for those with positive genetic test results. However, patients with negative results may receive false reassurance about cancer risks and fail to follow recommended screening. Emphasis should be placed on the importance of screening even when genetic test results are negative.