lunes, 26 de abril de 2010
Genomics in the Scientific Literature - Genetic Testing
Genomics in the Scientific Literature
1. Attitudes of Genetic Counselors Towards Genetic Susceptibility Testing in Children
Mackoff RL, et al.
J Genet Couns 2010 Apr
J Genet Couns. 2010 Apr 14. [Epub ahead of print]
Attitudes of Genetic Counselors Towards Genetic Susceptibility Testing in Children.
Mackoff RL, Iverson EF, Kiekel P, Dorey F, Upperman JS, Metzenberg AB.
Department of Biology, California State University, Northridge, Northridge, CA, USA, firstname.lastname@example.org.
Genetic susceptibility research and testing is leading to an era of personalized medicine. Genetic counselors act as liaisons between the medical genetics community and the public. Understanding the opinions of genetic counselors will be important in developing testing guidelines. Attitudes towards genetic susceptibility testing in children were assessed for 216 NSGC members. Genetic counselors were likely to support testing if the results would determine: disease progression or prognosis, likelihood of survival after a specific treatment, or risk for an adverse drug reaction. Genetic counselors were unlikely to support testing to determine susceptibility to later disease development or in the absence of available intervention. There was a strong positive correlation between attitudes associated with desire to test their own child, if at risk and their support for genetic testing in any child at risk. Respondents strongly favored parent/guardian and child's rights over doctor or insurance rights. They indicated assent should be obtained prior to testing, when appropriate, and that a copy of results should be kept in a permanent medical record. Respondents expressed concerns about insurance discrimination, testing in the absence of medical necessity, and taking away a child's autonomy.
PMID: 20390328 [PubMed - as supplied by publisher]
2. Debating clinical utility
Burke W, et al.
Public Health Genomics 2010;13(4):215-23
Public Health Genomics. 2010;13(4):215-23. Epub 2010 Apr 15.
Debating clinical utility.
Burke W, Laberge AM, Press N.
Department of Bioethics and Humanities, University of Washington, Seattle, Wash. 98195-7120, USA. email@example.com
The clinical utility of genetic tests is determined by the outcomes following test use. Like other measures of value, it is often contested. Stakeholders may have different views about benefits and risks and about the importance of social versus health outcomes. They also commonly disagree about the evidence needed to determine whether a test is effective in achieving a specific outcome. Questions may be presented as factual disagreements, when they are actually debates about what information matters or how facts should be interpreted and used in clinical decision-making. Defining the different issues at stake is therefore an important element of policy-making. Key issues include evidence standards for test use, and in particular, the circumstances under which prospective controlled data should be required, as well as evidence on feasibility, cost and equitable delivery of testing; the goals of population-based screening programs, and in particular, the role of social outcomes in evaluating test value; and the appropriate uses and funding of tests that inform non-medical actions. Addressing each of these issues requires attention to stakeholder values and methods for effective deliberation that incorporate consumer as well as health professional perspectives. Copyright 2010 S. Karger AG, Basel.
PMID: 20395690 [PubMed - in process]
3. Excellent agreement between genetic and hydrogen breath tests for lactase deficiency and the role of extended symptom assessment
Pohl D, et al.
Br J Nutr 2010 Apr:1-8
Br J Nutr. 2010 Apr 19:1-8. [Epub ahead of print]
Excellent agreement between genetic and hydrogen breath tests for lactase deficiency and the role of extended symptom assessment.
Pohl D, Savarino E, Hersberger M, Behlis Z, Stutz B, Goetze O, Eckardstein AV, Fried M, Tutuian R.
Division of Gastroenterology and Hepatology, University Hospital Zurich, Raemistrasse 100, 8091 Zürich, Switzerland.
Clinical manifestations of lactase (LCT) deficiency include intestinal and extra-intestinal symptoms. Lactose hydrogen breath test (H2-BT) is considered the gold standard to evaluate LCT deficiency (LD). Recently, the single-nucleotide polymorphism C/T- 13 910 has been associated with LD. The objectives of the present study were to evaluate the agreement between genetic testing of LCT C/T- 13 910 and lactose H2-BT, and the diagnostic value of extended symptom assessment. Of the 201 patients included in the study, 194 (139 females; mean age 38, range 17-79 years, and 55 males, mean age 38, range 18-68 years) patients with clinical suspicion of LD underwent a 3-4 h H2-BT and genetic testing for LCT C/T- 13 910. Patients rated five intestinal and four extra-intestinal symptoms during the H2-BT and then at home for the following 48 h. Declaring H2-BT as the gold standard, the CC- 13 910 genotype had a sensitivity of 97 % and a specificity of 95 % with a kappa of 0.9 in diagnosing LCT deficiency. Patients with LD had more intense intestinal symptoms 4 h following the lactose challenge included in the H2-BT. We found no difference in the intensity of extra-intestinal symptoms between patients with and without LD. Symptom assessment yielded differences for intestinal symptoms abdominal pain, bloating, borborygmi and diarrhoea between 120 min and 4 h after oral lactose challenge. Extra-intestinal symptoms (dizziness, headache and myalgia) and extension of symptom assessment up to 48 h did not consistently show different results. In conclusion, genetic testing has an excellent agreement with the standard lactose H2-BT, and it may replace breath testing for the diagnosis of LD. Extended symptom scores and assessment of extra-intestinal symptoms have limited diagnostic value in the evaluation of LD.
PMID: 20398434 [PubMed - as supplied by publisher]
4. Genetic screening: A primer for primary care
Andermann A & Blancquaert I
Can Fam Physician 2010 Apr;56(4):333-9
Can Fam Physician. 2010 Apr;56(4):333-9.
Genetic screening: A primer for primary care.
Andermann A, Blancquaert I.
Family Medicine Centre, St Mary's Hospital, McGill University, 3830 Lacombe Ave, Montreal, QC H3T 1M5. firstname.lastname@example.org
OBJECTIVE: To provide a primer for primary care professionals who are increasingly called upon to discuss the growing number of genetic screening services available and to help patients make informed decisions about whether to participate in genetic screening, how to interpret results, and which interventions are most appropriate. QUALITY OF EVIDENCE: As part of a larger research program, a wide literature relating to genetic screening was reviewed. PubMed and Internet searches were conducted using broad search terms. Effort was also made to identify the gray literature. MAIN MESSAGE: Genetic screening is a type of public health program that is systematically offered to a specified population of asymptomatic individuals with the aim of providing those identified as high risk with prevention, early treatment, or reproductive options. Ensuring an added benefit from screening, as compared with standard clinical care, and preventing unintended harms, such as undue anxiety or stigmatization, depends on the design and implementation of screening programs, including the recruitment methods, education and counseling provided, timing of screening, predictive value of tests, interventions available, and presence of oversight mechanisms and safeguards. There is therefore growing apprehension that economic interests might lead to a market-driven approach to introducing and expanding screening before program effectiveness, acceptability, and feasibility have been demonstrated. As with any medical intervention, there is a moral imperative for genetic screening to do more good than harm, not only from the perspective of individuals and families, but also for the target population and society as a whole. CONCLUSION: Primary care professionals have an important role to play in helping their patients navigate the rapidly changing terrain of genetic screening services by informing them about the benefits and risks of new genetic and genomic technologies and empowering them to make more informed choices.
PMID: 20393090 [PubMed - in process]Free Article