Watchdog calls for three year ban on insurers using genetic tests.
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Genetic Testing↗
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Results for “Genetic testing”
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
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Will genetic testing alter the management of disease caused by infectious agents? A cost-effectiveness analysis of gene-testing strategies for prevention of rheumatic Fever.
Cost-effectiveness analysis was done to evaluate the potential health and economic effects of a genetic screening program to identify individuals at risk for rheumatic fever (RF). The current RF prevention strategy was compared with a new, primary prevention strategy involving early genetic testing and intensive prophylaxis to prevent a first attack among individuals at high risk for RF. When analysis of a hypothetical 2000 birth cohort was done from a societal perspective, the prevention strategy involving genetic screening and prophylaxis for high-risk persons reduced the number of RF cases and increased life span at an estimated discounted cost of $7900 per quality-adjusted life-year gained. Genetic screening became the preferred (least expensive) strategy if the test specificity was >/=98%, the annual cost of prophylaxis was <$550, or the annual cost of caring for an individual with severe rheumatic heart disease increased to >$32,000. When used with available antibiotic prophylaxis, genetic testing has the potential to provide a cost-effective strategy for the primary prevention of RF and its sequelae.
Antibiotic Prophylaxis↗
Adverse selection and categorical discrimination in the health insurance markets: the effects of genetic tests.
In this paper, the effects of new methods for risk classification, e.g., genetic tests, on health insurance markets are studied using an insurance model with state contingent utility functions. The analysis focuses on the case of treatment costs higher than the patient's willingness to pay where standard models of asymmetric information are not applicable. In this case, the benefit from signing a fair insurance contract will be positive only if illness probability is low. In contrast to the common perception, additional risk classification under symmetric information can be efficiency enhancing. Under asymmetric information about illness risks, however, there can be complete market failure.
Genetic Testing↗
Genetic testing in pheochromocytoma: increasing importance for clinical decision making.
Hereditary pheochromocytomas and paragangliomas are caused by germline mutations in syndrome-associated genes. This includes multiple endocrine neoplasia Type 2 (MEN 2) caused by mutations in the RET proto-oncogene, von Hippel-Lindau (VHL) syndrome due to mutations of the VHL gene, neurofibromatosis Type I (NF1) caused by mutations of the NF1 gene, and pheochromocytoma/paraganglioma syndromes due to mutations in genes encoding the succinate dehydrogenase subunits D (SDHD) and B (SDHB). At the First International Symposium on Pheochromocytoma (ISP2005) organized by the National Institutes of Health, a panel of specialist clinicians and scientists from around the world addressed the topic of genetic testing in pheochromocytoma patients. This review summarizes the discussions and conclusions of the panel and provides a recommendation for evidence-based management of genetic testing in these patients and their families. A pragmatic algorithm is presented, taking into account patient age, tumor location (extra-adrenal, intra-adrenal, unilateral, and bilateral), biochemical presentation, and financial costs. This was based on cumulative frequencies ranging from 7.5% to 29% for germline mutations in four genes (RET, VHL, SDHB, and SDHD) in patients with apparently sporadic pheochromocytomas. This algorithm will need to be validated by further genetic analysis, multicenter studies, and long-term observations.
Adrenal Gland Neoplasms↗
Commentary: epidemiology and the continuum from genetic research to genetic testing.
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Epidemiology↗
Predictors of psychological adjustment to genetic testing for Huntington's disease.
In the present study the authors assessed predictors of adjustment to genetic testing for Huntington's disease. Fifty-two genetically positive and 108 genetically negative persons were studied for 1 year following testing. Adjustment, defined by hopelessness and depressive symptoms, was measured at 3, 6, 9, and 12 months after disclosure and was within normal limits for both groups. Those less well adjusted had tested positive, were married, had no children, or were closer to their estimated ages of onset. The study delineated risk factors for psychological distress that should be considered by people contemplating testing for Huntington's disease.
Adaptation, Psychological↗
Multiplex genetic testing. The Council on Ethical and Judicial Affairs, American Medical Association.
As panels of multiple genetic tests become increasingly available, clinicians face new challenges in helping patients understand the nature of these tests. Diagnostic tests for conditions that inevitably lead to disease, "susceptibility" tests that reveal heightened risk of disease, and tests for carrier status raise different concerns about informed consent and pose different needs for counseling. Clinicians must understand the implications of different kinds of tests, and of different arrays of tests in multiple panels, if multiplex tests are to be used wisely in clinical practice.
Disclosure↗
Impact of BRCA1/2 status on young women's sexual function, relationships, and reproduction after predictive genetic testing.
The experiences and outcomes for women identified with a BRCA1/2 pathogenic variant during young adulthood are qualitatively described but not well quantified. This study investigated the impact of BRCA1/2 status on women's reproduction, intimate partner relationships, and sexual functioning. Australian women aged 18-40 years who had predictive BRCA1/2 testing, received either a positive or negative result, and had no personal cancer history, completed an online survey that used a case-control design. Outcome measures included childbearing, use of reproductive technologies, relationship status, and sexual functioning. 579 women participated (62.0% with a BRCA1/2 PV; 38.0% without a BRCA1/2 PV). More women with a BRCA1/2 PV had children compared to those who did not (49.0% c.f., 40.5%; p = 0.045). BRCA1/2 status did not predict whether women were partnered at survey completion (Odds Ratio 1.20; 95% CI 0.80, 1.78) or their sexual functioning over the previous month (β-coefficient -0.08; 95% CI -1.15, 0.98). Women with a BRCA1/2 PV were more likely to have children after genetic testing (OR 1.83: 95% CI 1.05, 3.21) and were more likely to have a greater number of children after genetic testing (β-coefficient 0.41; 95% CI 0.10, 0.73) compared to women without a BRCA1/2 PV, after adjustment for confounders. Receiving a positive predictive BRCA1/2 result is associated with an increased likelihood of childbearing and having a greater number of children compared to receiving a negative predictive BRCA1/2 result. These findings contribute to the evidence base to inform long-term follow-up for women after predictive BRCA1/2 testing.
Humans↗
Anticipated uptake and impact of genetic testing in hereditary breast and ovarian cancer families.
In anticipation of the identification of the BRCA1 gene, we studied the interest in and anticipated reaction to DNA testing for mutations in this gene in members of high-risk families. We surveyed 91 female and 49 male subjects using a structured interview by study nurses. All subjects were members of inherited breast-ovarian cancer families participating in a genetic linkage study at the National Cancer Institute. The main outcomes of the study were interest in genetic testing and anticipated impact of test results. Seventy nine % of subjects indicated that they would "definitely" want to be tested, and 16% would "probably" want to be tested for mutations in the BRCA1 gene. Subjects with a high self-perceived risk of having an altered BRCA1 gene were more likely to definitely want testing (P = 0.02), while estimated true genetic risk did not predict interest in the test. Females were significantly more likely to definitely want testing (P = 0.005) and had a significantly greater mean anticipated negative-impact score (2.3) compared to males (1.0) (P < 0.001). We found a high level of interest in genetic testing for BRCA1 among members of inherited breast-ovarian cancer families participating in a genetic linkage study. While utilization may fall below levels of interest reported in this and other preliminary surveys, given the potential for early detection and treatment of breast and ovarian cancer, interest in BRCA1 testing may translate into high rates of uptake. These results indicate that it will be critical to incorporate follow-up counseling and support into BRCA1 testing programs.
Adult↗
Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment.
The differential diagnosis for children with diabetes includes a group of monogenic diabetic disorders known as maturity-onset diabetes of the young (MODY). So far, six underlying gene defects have been identified. The most common subtypes are caused by mutations in the genes encoding the transcription factor HNF-1a (MODY 3) and the glycolytic enzyme glucokinase (GCK) (MODY 2). MODY 2 is the most benign form of diabetes as the threshold for glucose sensing is elevated resulting in mild, regulated hyperglycemia. MODY 2 may usually be treated with diet alone without risk of microvascular complications. Patients with MODY usually present as children or young adults. Genetic testing for MODY in diabetic subjects is often not performed because of the costs and its unavailability in Switzerland. We describe the impact of the genetic analysis for MODY 2 on diabetes management and treatment costs in a five-year-old girl. The patient and her diabetic mother were both found to have a heterozygous missense mutation (V203A) in the glucokinase gene. The five-year-old girl was started on insulin therapy for her diabetes but because her HbA1c remained between 5.8-6.4% (reference 4.1-5.7%) and her clinical presentation suggested MODY insulin was discontinued. She is now well controlled on a carbohydrate controlled diet regimen only. Omission of insulin treatment made regular blood glucose monitoring unnecessary and removed her risk of hypoglycemia. Costs for the genetic analysis were 500 Euro. At our centre costs for diabetes care of a patient with type 1 diabetes are approximately 2050 Euro/year compared to 410 Euro/year for the care of a patient with MODY 2. In addition, a diagnosis of MODY 2 may reassure patients and their families, as microvascular complications are uncommon. Thus there are both health and financial benefits in diagnosing MODY 2. We recommend genetic testing for MODY 2 in clinically selected patients even though this analysis is currently not available in Switzerland and costs are not necessarily covered by the health insurances.
Child, Preschool↗
Improved genetic testing: a new impetus toward universal coverage.
As the Human Genome Project increases the predictive power of human genetics, emerging gene chip technology and other advances of genetic testing will give more information to people about their genetic predilections. If insurance companies were allowed to use this information, they would set premiums such that many who need life-saving medical treatment would have no access to it. Americans would not accept this disparity; instead, genetic information will likely remain private, making the modern health insurance system unprofitable for companies and thus pushing the United States towards a universal health care system in the near future.
Genetic Privacy↗
A genetic testing code of practice for insurers.
The Association of British Insurers has issued a Genetic Testing Code of Practice. The document consists of a forward and six parts, namely; Code of Practice, Statement of Duties of our Insurance Company's Chief Medical Director, Statement of the ABI Genetics advisors responsibilities, Principals of the adjudication system, the legal and ethical framework and confidentiality guidelines.
Genetic Testing↗
UK insurers allowed to use genetic tests.
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Genetic Testing↗
UK insurers agree five year ban on using genetic tests.
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Genetic Testing↗
Something not quite right: Gardner syndrome diagnosed by multiple cutaneous lesions and genetic testing.
Gardner syndrome is a variant of familial adenomatous polyposis characterized by intestinal adenomatous polyps, which can progress to adenocarcinoma, and a variety of extraintestinal manifestations, including skin cysts, osteomas, soft tissue fibrous tumours and a characteristic ocular lesion. The extraintestinal manifestations are often the presenting feature but are usually not sufficiently characteristic on their own to trigger recognition of the syndrome. We report a case of a 17-year-old female who had been treated by a number of specialists over a 13-year period for a variety of cutaneous lesions without a hereditary condition being suspected. Gardner syndrome was considered only after excision of subcutaneous fibrous tumours from the mastoid region and paraspinal area and was confirmed by genetic testing in spite of the patient's refusal to undergo colonic endoscopic examination. Subsequent resection revealed approximately 70 adenomatous colonic polyps in the colon and rectum but no invasive tumour, highlighting the benefits of genetic testing in treatment planning.
Adolescent↗
Psychological impact of genetic testing for breast cancer susceptibility in women of Ashkenazi Jewish background: a prospective study.
The recognition that the prevalence of three founder mutations in the BRCA1 and BRCA2 genes is over 2% in Ashkenazi Jews has resulted in numerous epidemiological research studies of this ethno-religious group. To determine the effects of incorporating research into clinical practice, a psychological impact study of women participating in an epidemiological study was conducted. Sixty women of Ashkenazi Jewish background who underwent genetic testing for founder mutations were assessed using mailed, self-administered questionnaires with validated measures of psychological outcome. Forty-three women elected to learn their results and 17 women declined to do so. Women who elected to learn their results were also assessed 7-10 days, 4 months, and 12 months after results disclosure. Women who chose to learn their results had significantly higher baseline breast cancer anxiety, compared to those who elected not to learn their results (z = -2.27; p = 0.023). Unaffected women who elected to learn their results showed a significant decrease in breast cancer anxiety 4 months (z = -2.37, p = 0.018) and 12 months (z = -3.06, p = 0.002) post-notification compared to baseline. Genetic testing for mutations common in Ashkenazi Jewish women with result disclosure does not lead to adverse psychological outcomes.
Adult↗
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Hereditary hemorrhagic telangiectasia (HHT; Osler-Weber-Rendu disease) is an autosomal dominant disease characterized by arteriovenous malformations ranging from cutaneous and mucous membrane telangiectasias to more severe pulmonary, gastrointestinal, and cerebral arteriovenous malformations (AVMs). Acute complications from bleeding or pulmonary shunting may be catastrophic. However, when diagnosed early, the complications can usually be prevented. Mutations in two genes, Endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1 or ALK1) have been associated with HHT. We describe the results of mutation analysis on a consecutive series of 200 individuals undergoing clinical genetic testing for HHT. The observed sensitivity of mutation detection was similar to that in other series with strict ascertainment criteria. A total of 127 probands were found, with sequence changes consisting of 103 unique alterations, 68 of which were novel. In addition, eight intragenic rearrangements in the ENG gene and two in the ACVRL1 gene were identified in a subset of coding sequence mutation-negative individuals. Most individuals tested could be categorized by the number of HHT diagnostic criteria present. Surprisingly, almost 50% of the cases with a single symptom were found to have a significant sequence alteration; three of these reported only nosebleeds. Genetic testing can confirm the clinical diagnosis in individuals and identify presymptomatic mutation carriers. As many of the complications of HHT disease can be prevented, a confirmed molecular diagnosis provides an opportunity for early detection of AVMs and management of the disease.
Activin Receptors, Type II↗
Psychosocial issues in reproductive genetic testing and pregnancy loss.
This paper considers the psychosocial experience of women undergoing reproductive genetic testing, with attention to the impact of pregnancy loss after testing. New directions for research are called for to provide more in-depth understanding of the meaning of these experiences for women and their male partners.
Abortion, Eugenic↗