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PubMed1998

The autonomy paradox: predictive genetic testing and autonomy: three essential problems.

The development of genetics creates the possibility to acquire more and more information concerning our genetic constitution. In general this is considered as a contribution to the autonomy of patients and others. In this article it is pointed out that the relation between genetic information and autonomy is far from simple. The autonomy of people may even be threatened by genetic information. Counsellors should therefore be very careful in offering the opportunity of genetic testing; a general policy of restraint would be advisable. And when offering information, several considerations should be kept in mind in order to avoid doing more harm than good in the counseling process.

Ethics, Medical↗

PubMedDate not supplied

Teaching clinical management skills for genetic testing of hereditary nonpolyposis colorectal cancer using a Web-based tutorial.

PURPOSE: To pilot and evaluate an interactive Web-based continuing medical education tutorial on clinical management of hereditary nonpolyposis colon cancer (HNPCC) and genetic testing. METHODS: Gastroenterology fellows and genetic counseling trainees were asked to read standard written materials before taking the tutorial. A pretest/post-test assessment was used to measure change in subjects' clinical management skills. RESULTS: Subjects made the correct management decision 63.9% of the time before the tutorial and 81.1% of the time after the tutorial (P < 0.001). CONCLUSIONS: Supplementing written materials with an interactive program may assist medical professionals in integrating their knowledge of HNPCC and genetic testing into clinical practice.

Adult↗

PubMed2005

Too much, too soon? Patients and health professionals' views concerning the impact of genetic testing at the time of breast cancer diagnosis in women under the age of 40.

Recent research suggests that women who develop breast cancer between the ages of 30-34 may have specific tumour characteristics: Those with high grade, oestrogen receptor negative, human epidermal growth factor receptor 2 (HER-2) negative tumours have between a 10% and 27% chance of being a BRCA1 gene carrier. Carriers of BRCA1 and BRCA2 mutations have an increased risk of contralateral breast cancer and cancer of the ovary. Furthermore, recent research indicates that prophylactic mastectomy and/or oophorectomy offer a significant risk reduction in the development of breast/ovarian cancer. In the near future, women in the UK may be offered the choice of a genetic test close to the time of diagnosis. This timing not only provides additional dimensions to treatment decisions, but has psycho-social and familial implications as well. This exploratory study investigates, first, whether or not women diagnosed with breast cancer under the age of 40 would want to be offered information about genetic testing close to the time of their diagnosis. Then secondly, it explores whether the health care professionals treating them support this idea. Third, it highlights the reasons for the women and the health professionals perspectives and concerns. We held focus groups of 13 women who had their only, or first, breast cancer under the age of 40 and who were subsequently identified as BRCA1 or BRCA2 mutation carriers, asking them how they felt about this timing. We also interviewed 17 health care professionals involved in various aspect of breast cancer care and cancer genetics. The majority of former breast cancer women and professionals believed that there was already emotional overload in coping with the cancer diagnosis and decisions regarding existing cancer treatment options and that offering genetic testing would add too much additional stress. Some members of both groups, however, thought that offering genetic testing around the time of breast cancer diagnosis would be more important if the results could alter treatment decisions.

Adult↗

PubMed1989

Genetic testing for neurologic diseases. A rose with thorns.

Genetic testing for neurologic conditions, including HD, requires that the primary concerns of informed consent, counseling and support, and confidentiality be recognized and addressed. A safe, reliable test should be available to those who want the information and understand the limitations of the testing procedure. However, testing should be in the context of multifaceted counseling, which combines a variety of components. Safeguards for confidentiality should be assured. Predictive testing for hereditary disease emphasizes the need to focus on capabilities rather than disability. This is an extension of the larger reality that continuing advances in health care can extend the length of an individual's life and stave off death without restoring health. Certainly, new developments in molecular biology may provide new tools, but the basic ethical problems are fundamental issues independent of technology. Just as change is not necessarily progress, the application of scientific advances to health care does not automatically benefit humanity. Sensitivity to human needs is the art of applying medical technology.

Ethics, Medical↗

PubMed2000

Psychological impact of genetic testing for adult-onset disorders. An update for clinicians.

Testing for gene mutations that confer susceptibility to adult-onset disorders has potential benefits, but these must be balanced against the psychological harms, if any. We review published findings on the psychological effects of such testing, focusing on Huntington's disease, which has the most available data, and the hereditary cancer syndromes. Most of the evidence suggests that non-carriers and carriers differ significantly in terms of short-term, but not long-term, psychological adjustment to test results. The psychological impact of genetic testing depends more on pretest psychological distress than the test result itself.

Adaptation, Psychological↗

PubMed2003

Physician use of genetic testing for cancer susceptibility: results of a national survey.

Genetic testing for inherited germ-line mutations associated with cancer susceptibility is an emerging technology in medical practice. Limited information is currently available about physician use of cancer susceptibility tests (CSTs). In 1999-2000, a nationally representative survey was conducted to estimate prevalence of CST use by United States physicians and assess demographic, training, practice setting, and practice patterns associated with use. A stratified random sample of clinicians in eight specialties was selected from a file of all licensed physicians. In total, 1251 physicians, including 820 in primary care and 431 in tertiary care, responded to a 15-min questionnaire by mail, telephone, fax, or Internet (response rate = 71.0%). In the previous 12 months, 31.2% [95% confidence interval (CI), 28.5-33.9] overall, including 30.6% (95% CI, 27.5-33.7) in primary care and 33.4% (95% CI, 27.9-38.9) in tertiary care, had ordered CSTs or referred patients elsewhere for risk assessment or testing. More physicians referred patients elsewhere [26.7% (95% CI, 24.2-29.2)] than directly ordered tests [7.9% (95% CI, 6.3-9.5)]. Factors associated with ordering or referring included practice location in the Northeast [odds ratio (OR), 2.30; 95% CI, 1.46-3.63%], feeling qualified to recommend CSTs (OR, 1.96; 95% CI = 1.41-2.72), receiving CST advertising materials (OR, 1.97; 95% CI, 1.40-2.78%), and most notably, having patients who asked whether they can or should get tested (OR, 5.52; 95% CI, 3.97-7.67%). Lower CST use was associated with not knowing if there were local testing and counseling facilities (OR, 0.39; 95% CI, 0.23-0.66%). These findings underscore the importance of establishing effective clinical approaches to test use and promoting physician education to facilitate communication with patients about cancer genetics.

Adult↗

PubMedDate not supplied

Uptake of hereditary breast/ovarian cancer genetic testing in a French national sample of BRCA1 families. The French Cancer Genetic Network.

Due to the technical difficulties involved in identifying BRCA1/2 genetic mutations, the affected patients have to be investigated before testing can be made available to all the relatives at risk. Here, we studied the attendance rates at cancer genetic clinics (CGC) and the uptake of genetic testing in first/second degree relatives after the first BRCA1 mutated woman with cancer had been informed in the family. We carried out a survey on French cancer geneticists involved in breast/ovarian CGC, asking them to select their first three BRCA1 family records. Data collection was carried out retrospectively by telephone interview with a standardised closed item questionnaire. Considering only those families (n = 37) where the index case had been informed for at least 8 months at the time of the survey, the overall attendance at CGC of first/second degree relatives (n = 419) was 31.7% (n = 133) and the overall uptake of BRCA1 testing was 26.7% (n = 112). Among those who attended the CGC (n = 133), 84.2% (n = 112) requested genetic testing (95% confidence interval: 78-90.4%). Among the first degree relatives, the unaffected women who attended accounted for 59.8% and 51.2% requested testing after the index case had been informed. Women with cancer had a higher attendance rate (83.3%) than unaffected women (36.1%) (Odds Ratio (OR) = 8.86; p < 0.001) and first degree relatives (51.4%) than second degree relatives (17.9%) (OR = 2.87; p < 0.001); women (43%) also attended more frequently than men (16%) (OR = 3.97, p < 0.001). In French BRCA1 mutated families, female first degree relatives of the index patient show the most interest in genetic testing.

Adult↗

PubMed2004

Assessment of a decision aid to assist genetic testing research participants in the informed consent process.

Limited attention has been given to applying decision-making theories from psychology to the content and process of informed consent in genetic testing research. Data are presented from a study that developed and assessed a psychological theory-based decision aid as part of the informed consent process. This innovative approach assisted at-risk women in assessing the consequences of participating in a research project that offered them free hemophilia A genetic carrier testing. Results suggest: (1) the decision aid can be incorporated into the consent process with few problems; (2) women of varying educational backgrounds can complete the decision aid; (3) while women consider many consequences of genetic testing, their primary focus is on the implications for their family; and (4) this is in marked contrast to the typical benefit-harm statements prepared by researchers for genetic testing.

Consent Forms↗

PubMedDate not supplied

Genetic tests and their evaluation: can we answer the key questions?

The rapid pace of research in the field of genetics has already yielded many benefits. The development of new genetic tests is one such example. Before there can be widespread uptake of these tests they need to be evaluated to confirm the benefits of their use. The authors review some of the key features of the evaluation of diagnostic tests focusing on analytical and clinical validity. Test properties such as sensitivity, specificity, likelihood ratios, positive and negative predictive values, and how they relate to molecular genetic testing are discussed. Associated issues such as the concepts of disease definition, imperfect reference standards, and false positives are also explored. The authors suggest possible approaches to addressing some of the problems identified.

Evaluation Studies as Topic↗

PubMedDate not supplied

[Which genetic tests in infertile men?].

Genetic investigations of idiopathic male infertilities should be systematic and should include a familial inquiry, a careful physical examination looking for one of the many genetic syndromes with male sterility and the karyotype. Moreover the search of a microdeletion in Yq AZF region should be undertaken as soon as it is possible; The licity of ICSI in genetic male infertility is discussed depending on the autosomal recessive or Yq linked genetic origin.

Fertilization in Vitro↗

PubMedDate not supplied

Patient or physician preferences for decision analysis: the prenatal genetic testing decision.

The choice between amniocentesis and chorionic villus sampling for prenatal genetic testing involves tradeoffs of the benefits and risks of the tests. Decision analysis is a method of explicitly weighing such tradeoffs. The authors examined the relationship between prenatal test choices made by patients and the choices prescribed by decision-analytic models based on their preferences, and separate models based on the preferences of their physicians. Preferences were assessed using written scenarios describing prenatal testing outcomes, and were recorded on linear rating scales. After adjustment for sociodemographic and obstetric confounders, test choice was significantly associated with the choice of decision models based on patient preferences (odds ratio 4.44; Cl, 2.53 to 7.78), but not with the choice of models based on the preferences of the physicians (odds ratio 1.60; Cl, 0.79 to 3.26). Agreement between decision analyses based on patient preferences and on physician preferences was little better than chance (kappa = 0.085+/-0.063). These results were robust both to changes in the decision-analytic probabilities and to changes in the model structure itself to simulate non-expected utility decision rules. The authors conclude that patient but not physician preferences, incorporated in decision models, correspond to the choice of amniocentesis or chorionic villus sampling made by the patient. Nevertheless, because patient preferences were assessed after referral for genetic testing, prospective preference-assessment studies will be necessary to confirm this association.

Amniocentesis↗

PubMed2005

Genetic testing for pharmacogenetics and its clinical application in drug therapy.

There is wide individual variation in drug responses and adverse effects. As the main causes of the variation in drug responses, attention has focused on the genetic polymorphisms that encode metabolic enzymes regulating pharmacodynamics and receptors modulating the affinity with the responsive sites. Tailor-made drug therapy analyzes genetic polymorphisms involved in drug responses before drug administration and selects drugs and doses suitable for the individual genetic background. Establishment of tailor-made drug therapy is expected to contribute to medical economy by avoiding wasteful drug administration. To promote such medical practice, it is necessary to use simple genetic testing that is clinically convenient. Currently, genetic testing using real-time PCR has been frequently employed at laboratories with its clinical application anticipated. As to the many genes involved in drug responses, to date, the application of patient genetic information to tailor-made drug therapy has been achieved at the practical level. Information on pharmacogenetics will be a critical factor in medical practice in the near future.

Arylamine N-Acetyltransferase↗

PubMed2005

Physician exposure to and attitudes toward advertisements for genetic tests for inherited cancer susceptibility.

Commercial marketing materials may serve as a source of information for physicians about genetic testing for inherited cancer susceptibility (GTICS) in addition to medical guidelines, continuing education, and journal articles. The primary purposes of this study were to: (1) determine the percentage of physicians who received advertisements for GTICS early in the diffusion of commercial GTICS (1999-2000); (2) assess associated characteristics; and (3) measure the perceived importance of commercial advertisements and promotions in physicians' decisions to recommend testing to patients. A nationally representative, stratified random sample of 1,251 physicians from the American Medical Association (AMA) Physician Masterfile completed a 15-20 min mixed mode questionnaire that assessed specialty, previous use of genetic tests, practice characteristics, age, and receipt of advertising materials (response rate = 71%). Overall, 27.4% (n = 426) had received advertisements. In multivariate analysis, factors associated with receipt of advertisements included: specialties in obstetrics/gynecology, oncology, or gastroenterology; past GTICS use, and age 50+. One of four felt that advertisements would be important in their decision to recommend GTICS. Study results indicate that physicians, particularly in oncology, obstetrics/gynecology, and gastroenterology, began receiving GTICS advertisements commensurate with the early diffusion of commercially available tests into clinical practice. At that time, one-quarter of the physicians considered advertisements to play an important role in their clinical decision making, suggesting attention to other sources of information and additional factors.

Advertising↗

PubMedDate not supplied

Demographic factors for utilization of invasive genetic testing after multifetal pregnancy reduction.

OBJECTIVE: Pregnant infertility patients are commonly old enough to be offered prenatal diagnosis. However, they may be reluctant to undergo an additional invasive procedure. We, therefore, sought to determine what demographic factors, including race and ethnic group, influenced patients' decisions to undergo genetic testing in addition to multifetal pregnancy reduction (MFPR). METHODS: We retrospectively reviewed MFPR patients from July 1997 to June 1999 at our institution. Invasive genetic testing was routinely discussed. Maternal age, race, ethnicity, religion, egg source for in vitro fertilization (IVF) patients, and the remaining fetuses following MFPR were analyzed for invasive genetic testing determinants and were compared to our experiences with genetic referents to us for singleton pregnancies. 132 consecutive patients, of whom 49 were >/=35 years, including 15 having IVF with donor eggs, were included. RESULTS: Maternal age was the single most significant determinant of testing. In donor egg cases, donor age was significant. Ethnic background, previous children, and the remaining number of fetuses after MFPR were also significant determinants. CONCLUSION: MFPR patients share similar demographics to the advanced maternal age population. Despite the very stressful situations, our data suggest that maternal age, and therefore genetic risk, is the most important determinant of choosing whether or not to have testing. However, patients' decisions are, to varying degrees, modified by religious and ethnic considerations.

Adult↗

PubMed2002

Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer.

PURPOSE: Identification of germline mutations in mismatch repair genes is increasingly being used to guide clinical practice in hereditary non-polyposis colon cancer. The aim of this study was to retrospectively assess the clinical utility of immunostaining and microsatellite instability testing in a group of individuals in whom germline testing of hMSH2 and hMLH1 had already been performed. METHODS: Individuals were identified from the records of family cancer clinics. A total of thirty-eight tumour blocks were retrieved from 28 kindreds. DNA was extracted and PCR amplification of six microsatellite markers was performed. Immunostaining was used to examine the expression of hMSH2 and hMLH1 protein. RESULTS: Of the 32 assessable tumours, 24 (75%) showed microsatellite instability. Most of the MSI-H cancers (92%) failed to express either hMLH1 or hMSH2. Deleterious germline mutations were identified in the proband in 12 of 28 families. Missense mutations were identified in 11 cases and no mutations in six probands. CONCLUSIONS: The use of germline genetic testing is indicated for a highly selected group of individuals. MSI testing and immunostaining are extremely useful tools which significantly improve the clinical interpretation of germline results. Ambiguity regarding the significance of missense mutations in hereditary bowel cancer suggests that these findings should be interpreted with caution.

Adaptor Proteins, Signal Transducing↗

PubMed1998

Genetic testing for Gilbert's syndrome: how useful is it in determining the cause of jaundice?

Gilbert's syndrome is a benign condition causing hyperbilirubinemia, which is also a symptom of liver or hemolytic disease. A genetic test may be possible for Gilbert's syndrome because an associated gene defect has been isolated. Here we present a mathematical analysis of the use of this test in excluding harmful causes of hyperbilirubinemia. The effectiveness of the test depends on a low prevalence and high penetrance of the gene defect and a low prevalence of harmful hyperbilirubinemia. If the gene defect has a 12% prevalence and 10% penetrance, then the prevalence of harmful hyperbilirubinemia needs to be <1.5% for a positive test to reduce this risk fivefold. Estimates of the prevalence of harmful hyperbilirubinemia and of the prevalence and penetrance of the Gilbert genotype are required to assess the value of the genetic test in determining a cause of hyperbilirubinemia. Until these values for prevalence and penetrance are known, genetic testing for Gilbert's syndrome cannot be recommended on a routine basis.

Diagnosis, Differential↗

PubMed2006

Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.

BACKGROUND: Mutations in the RyR2-encoded cardiac ryanodine receptor/calcium release channel and in CASQ2-encoded calsequestrin cause catecholaminergic polymorphic ventricular tachycardia (CPVT1 and CPVT2, respectively). OBJECTIVES: The purpose of this study was to evaluate the extent of genotypic and phenotypic heterogeneity among referrals for CPVT genetic testing. METHODS: Using denaturing high-performance liquid chromatography and DNA sequencing, mutational analysis of 23 RyR2 exons previously implicated in CPVT1, comprehensive analysis of all translated exons in CASQ2 (CPVT2), KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), KCNE2 (LQT6), and KCNJ2 (Andersen-Tawil syndrome [ATS1], also annotated LQT7), and analysis of 10 ANK2 exons implicated in LQT4 were performed on genomic DNA from 11 unrelated patients (8 females) referred to Mayo Clinic's Sudden Death Genomics Laboratory explicitly for CPVT genetic testing. RESULTS: Overall, putative disease causing mutations were identified in 8 patients (72%). Only 4 patients (3 males) hosted CPVT1-associated RyR2 mutations: P164S, V186M, S3938R, and T4196A. Interestingly, 4 females instead possessed either ATS1- or LQT5-associated mutations. Mutations were absent in >400 reference alleles. CONCLUSION: Putative CPVT1-causing mutations in RyR2 were seen in <40% of unrelated patients referred with a diagnosis of CPVT and preferentially in males. Phenotypic mimicry is evident with the identification of ATS1- and LQT5-associated mutations in females displaying a normal QT interval and exercise-induced bidirectional VT, suggesting that observed exercise-induced polymorphic VT in patients may reflect disorders other than CPVT. Clinical consideration for either Andersen-Tawil syndrome or long QT syndrome and appropriate genetic testing may be warranted for individuals with RyR2 mutation-negative CPVT, particularly females.

Adolescent↗

PubMed2005

Inherited polyposis syndromes: molecular mechanisms, clinicopathology, and genetic testing.

The inherited polyposis syndromes are a group of conditions in which multiple gastrointestinal polyps occur in the lumen of the gastrointestinal tract, most exhibit an increased risk of colon cancer. Benign and malignant extraintestinal tumors might also be observed. Recent elucidation of the underlying gene mutations has contributed to our understanding of the cell biology and molecular mechanisms associated with gastrointestinal tumorigenesis. Developments have also allowed genetic testing to become an integral component in accurate diagnosis, categorization, and management of inherited polyposis syndromes. In this review, we will focus on familial adenomatous polyposis, mutY human homologue-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis, and Cowden syndrome. It is essential that both physician and patient understand the benefits and limitations of genetic testing before submission of samples to the laboratory. There are many issues accompanying molecular diagnosis of cancer syndromes, and genetic counseling is an essential prelude to genetic testing.

Adenomatous Polyposis Coli↗