Community genetics最新文献

Objective: To describe the psychological reaction to information about diagnostic genetic testing for alpha-1 antitrypsin deficiency (Alpha-1) and cystic fibrosis (CF) in chronic obstructive pulmonary disease and/or bronchiectasis patients who were tested but did not know the results.

Methods: One hundred and three adults took the State-Trait Anxiety Inventory before and after a standardized educational intervention and responded to a questionnaire.

Results: Information about the limitations, risks and benefits of Alpha-1 and CF testing did not raise mean anxiety levels. Mean anxiety was slightly lower after the educational intervention than at baseline (mean pretest score 35.0, posttest score 33.7; p < 0.05). Participants whose physician preinformed them of genetic testing had slightly higher mean anxiety than other participants, both before and after the intervention, but scores were comparable to those in a normative sample of general medical and surgical patients.

Conclusions: Disclosure of information regarding Alpha-1 and CF testing appears to be potentially acceptable to patients and unlikely to prevent clinicians from conducting useful diagnostic procedures. This study is a step in alleviating concerns about raising issues related to genetic testing for Alpha-1 and CF in chronic obstructive pulmonary disease patients during the informed consent process.

This study explored whether reactions to the Cancer Genetics Network (CGN) or CGN enrollment differed by receipt of a standard informational brochure versus a targeted version addressing factors previously associated with African Americans' health behavior decisions and research participation. The 262 participants, identified through tumor registries or clinic contacts, were mailed brochures and completed phone interviews. When asked whether - based on the brochure - they were or were not 'leaning toward' CGN enrollment, about 75% of both standard and targeted groups reported leaning toward. When given the opportunity at the end of the interview, 68% enrolled in the CGN. Trust was strongly related to enrollment. Less education, less satisfaction with cancer care, and individualistic rather than collective orientation were associated with lower trust. Education was also bivariately associated with enrollment, but mediation analysis indicated that the operational mechanism of education's influence on enrollment was through trust.

Aims: To explore patients' understanding and experiences of familial hypercholesterolemia (FH) and the significance of the hereditary aspect of the condition.

Methods: A qualitative study undertaken at a large lipid clinic in the north of England, involving semistructured interviews with 31 patients with definite FH, aged 18 years or over, who had attended the clinic for at least 6 months.

Results: Participants' explanations of FH and coronary heart disease (CHD) were not focused on heredity. FH was regarded as controllable and CHD as avoidable. Many participants had apparently been unaware of a family history of CHD or hypercholesterolemia prior to their own diagnosis. It was unclear how much information was communicated among relatives. While the testing of children was generally not viewed as a problem, there was some concern about young people worrying about or resisting diagnosis.

Conclusion: The study suggests that people with FH do not view genes/heredity as having a deterministic role in causing heart disease and that FH is largely seen as unproblematic in the long term. Nevertheless, particular support may be needed when diagnosing children and young adults. The communication of information in families is unpredictable and this has important implications for the organization of screening programs.

Objectives: In 2000, the Ministry of Health in Ontario, Canada, introduced a publicly funded program to provide genetic services for hereditary breast/ovarian and colorectal cancers. We surveyed physicians to determine their awareness, use and satisfaction with this program.

Methods: A self-administered questionnaire was mailed to a random sample of 25% of Ontario family physicians and all gynecologists, oncologists (radiation, surgical and medical), gastroenterologists and general surgeons.

Results: Response rate was 49% (n = 1,427). Awareness of genetic testing for breast/ovarian cancer was high (91%) but less for colorectal cancer (60%). Use of services was associated with physician age of 40 or greater, urban location, confidence in knowledge of referral criteria and core competencies in genetics, and awareness of the program and where to refer. Almost half were dissatisfied with notification about the program.

Conclusions: Ontario physicians are aware of cancer genetics services, and use is associated with increased knowledge of services, and confidence in skills. They would like more timely services and education about hereditary cancers and susceptibility testing.

Objectives: Regarding the recent attention to develop policies regarding the provision of clinical genetic testing services, access to, acceptance, utilisation and regulation of genetic services was investigated in selected European countries as well as one non-European country.

Methods: Data were collected on the basis of relevant international reports and sources accessible via the internet, from self- designed, internationally administered surveys and with the help of a panel of experts from European countries participating in several workshops as well as from National European Societies of Human Genetics.

Results: A selection of divergent health care systems was reviewed and compared (e.g. Finland, Germany, Portugal, Sweden, UK, France, Italy, Spain, Czech Republic, Lithuania and Serbia/Montenegro). For the evaluation of clinical validity and utility of genetic testing, background information was provided focussing on DNA-based testing for heritable disorders with a strong genetic component (usually due to the action of a single gene).

Conclusions: There is great heterogeneity in genetic testing services among the countries surveyed. It is premature to mandate that genetic testing provided by clinical services meets professional standards regarding clinical validity and utility, because there is to date no consensus within the scientific community and among health care providers to what extent clinical validity and utility can and need to be assessed. Points to consider in the process of developing such standards are proposed.

The Cancer Genetics Network (CGN) is one of a growing number of large-scale registries designed to facilitate investigation of genetic and environmental contributions to health and disease. Despite compelling scientific and social justice arguments that recommend diverse participation in biomedical research, members of ethnic minority groups continue to be chronically underrepresented in such projects. The CGN studies reported in this issue used strategies well documented to increase minority participation in research activities, including use of community-targeted materials, addressing community trust concerns, and the adoption of personalized and flexible research protocols. Here, we review the outcome of these efforts to increase minority recruitment to the CGN, and ask what lessons the findings suggest for future minority recruitment initiatives.

Objective: The aim of the study was to investigate genetic heterogeneity among local Japanese populations.

Methods: We performed a single nucleotide polymorphism (SNP) study of four demographically distinct local populations (population 1: a large city; population 2: isolated islands; populations 3 and 4: rural areas). Seventy SNPs in a region spanning 5 Mb of chromosome 17 known to be a candidate region for essential hypertension were genotyped and linkage disequilibrium analyses were performed.

Results: Statistical analyses of SNP allele frequencies and haplotype distribution showed significant divergence among the populations, mostly between population 2 and the other populations. Pairwise D' declined with increasing population size, and smaller populations retained a high linkage disequilibrium.

Conclusion: Population 2 is likely to have a different ancestry from the majority of the Japanese population, whereas the heterogeneity among the other populations may result from differences in population size or geographic background.

Background/aims: This study was performed to identify primary care physicians' (PCPs) attitudes toward genetic medicine and their perceived needs for education in this area.

Methods: Semistructured telephone interviews with 24 PCPs in the northwestern United States.

Results: PCPs are interested in learning more about who should receive genetic testing and what tests are available. Training in counseling and risk communication is desired, as are 'just-in-time' resources to guide clinical decisions.

Conclusions: PCPs are eager to learn about genetic medicine; however, their priorities may differ in emphasis from those put forward by genetics experts. Future educational efforts would do well to build on PCPs' prior knowledge base, highlight the clinical relevance of genetic medicine to primary care practice, and emphasize 'red flags': cues to alert PCPs to a potential genetic contribution.

Background: Too few familial hypercholesterolemia (FH) patients are diagnosed. The most cost-effective strategy to diagnose FH is to examine first-degree relatives of already diagnosed patients. This is referred to as cascade genetic screening.

Methods and results: One thousand eight hundred and five first-degree relatives of index patients with molecularly defined FH consented to cascade genetic screening by the use of molecular genetic testing. Of these, 44.8% were mutation carriers and 55.2% were noncarriers. Only 44.2% of the mutation carriers were on lipid-lowering drugs at the time of genetic testing. Of these, only 9.4% had a value for total serum cholesterol below 5 mM. Among adult mutation carriers who were not on lipid-lowering treatment at the time of genetic testing, reductions in total serum cholesterol and low-density lipoprotein cholesterol of 18.4% (p < 0.0001) and 25.3% (p < 0.0001), respectively, were observed 6 months after genetic testing. It is assumed that this improvement in the lipid profile is due to a definite diagnosis obtained by molecular genetic testing. By using the results of genetic testing as the gold standard for diagnosis of FH, data from a questionnaire filled out by the relatives showed that the use of clinical criteria to diagnose FH in general practice had a sensitivity of 46.2% and a specificity of 88.0%.

Conclusions: The use of clinical diagnostic criteria to diagnose FH in general practice identifies only approximately 50% of FH patients. Molecular genetic testing as part of cascade genetic screening is an efficient tool to diagnose patients, leading to significant improvement in the lipid profile. It should therefore be implemented in clinical medicine.

Aims: Information about risk factors and preventive measures given before conception is estimated to prevent 15-35% of adverse pregnancy outcomes. We aimed to identify women's motives for not responding to an invitation for preconception counseling (PCC) from their general practitioner.

Methods: A purposive sample of 11 women who did not respond to an invitation for PCC and who became pregnant within 1 year was interviewed.

Results: Three key themes influencing nonresponse emerged from the data: perceived knowledge, perceived lack of risk and a misunderstanding of the aim of PCC.

Conclusion: For successful future implementation of PCC, a more tailored approach may be necessary for certain (groups of) women, addressing the reasons why women do not consider themselves part of the target group for PCC.