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Genetic testing ethics

Divya Talwar, Tung-Sung Tseng, Margaret Foster, Lei Xu, Lei-Shih Chen
PURPOSE: The completion of the Human Genome Project has enhanced avenues for disease prevention, diagnosis, and management. Owing to the shortage of genetic professionals, genetics/genomics training has been provided to nongenetic health professionals for years to establish their genomic competencies. We conducted a systematic literature review to summarize and evaluate the existing genetics/genomics education programs for nongenetic health professionals. METHODS: Five electronic databases were searched from January 1990 to June 2016...
October 20, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Mark B Warren, Kathryn M Schak
A diagnosis of Huntington's disease has broad social, vocational, reproductive and psychological implications. The ability to accurately diagnose the illness via genetic testing is not new. However, given a persistent lack of robustly effective interventions, it remains an area of ethical concern. The difficulty is compounded in cases of intellectual disability. This paper presents a case of genetic testing for Huntington's disease conducted on a patient with intellectual disability with guardian consent, but without the patient's direct knowledge and how the family illness narrative and psychiatric care were employed in the eventual disclosure of the patient's diagnosis and subsequent management...
October 15, 2016: Journal of Genetic Counseling
Lisa Hui, Diana W Bianchi
Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years, this screening test has revolutionized prenatal care globally and opened up new prospects for personalized medicine for the fetus. There are widespread implications for increasing the scope of human genetic variation that can be detected before birth, and for discovering more about materno-fetal and placental biology. These include an urgent need to develop pretest education for all pregnant women and consistent posttest management recommendations for those with discordant test results...
October 10, 2016: Annual Review of Medicine
Brianne E Kirkpatrick, Misha D Rashkin
Ancestry testing is a home DNA test with many dimensions; in some cases, the implications and outcomes of testing cross over into the health sphere. Common reasons for seeking ancestry testing include determining an estimate of customer's ethnic background, identifying genetic relatives, and securing a raw DNA data file that can be used for other purposes. As the ancestry test marketplace continues to grow, and third-party vendors empower the general public to analyze their own genetic material, the role of the genetic counselor is likely to evolve dramatically...
October 4, 2016: Journal of Genetic Counseling
Maya Sabatello, S Appelbaum
This paper considers the ethical, legal, and social issues raised by the prospect of increasing use of psychiatric genetic data in child custody litigation. Although genetic tests cannot currently confirm a parent or child's psychiatric diagnosis, it is likely that as relevant findings emerge, they will be introduced in family courts to challenge parental capacity. Here, we draw on three projected, but plausible, scenarios for obtaining psychiatric data about parents -- imposed genetic testing, access to medical records, and genetic theft -- then consider the use of psychiatric genetic data of children, to highlight the issues that judges, child custody evaluators, and clinicians who may provide treatment for parents or children with mental health issues will need to consider...
September 2016: Current Genetic Medicine Reports
W Mazzucco, R Pastorino, T Lagerberg, M Colotto, E d'Andrea, C Marotta, C Marzuillo, P Villari, A Federici, W Ricciardi, S Boccia
BACKGROUND: A need for a governance of genomics in healthcare among European Union (EU) countries arose during an international meeting of experts on public health genomics (PHG). We have conducted a survey on existing national genomic policies in healthcare among Chief Medical Officers (CMOs) of the 28 EU member states, plus Norway. METHODS: A questionnaire was sent to CMOs after a meeting on the policy implications of PHG held during the Italian presidency of the Council of EU in 2014...
September 29, 2016: European Journal of Public Health
Sanne van der Hout, Kim Ca Holtkamp, Lidewij Henneman, Guido de Wert, Wybo J Dondorp
Expanded universal carrier screening (EUCS) entails a twofold expansion of long-standing (preconception) carrier screening programmes: it not only allows the simultaneous screening of a large list of diseases ('expanded'), but also refers to a pan-ethnic screening offer ('universal'). Advocates mention three main moral advantages of EUCS as compared with traditional (targeted and/or ancestry-based) forms of carrier screening: EUCS will (1) maximise opportunities for autonomous reproductive choice by informing prospective parents about a much wider array of reproductive risks; (2) provide equity of access to carrier testing services; (3) reduce the risk of stigmatisation...
September 28, 2016: European Journal of Human Genetics: EJHG
Roel H P Wouters, Rhodé M Bijlsma, Margreet G E M Ausems, Johannes J M van Delden, Emile E Voest, Annelien L Bredenoord
Ever since genetic testing is possible for specific mutations, ethical debate has sparked on the question of whether professionals have a duty to warn not only patients but also their relatives that might be at risk for hereditary diseases. As next generation sequencing swiftly finds its way into clinical practice, the question who is responsible for conveying unsolicited findings to family members becomes increasingly urgent. Traditionally, there is a strong emphasis on the duties of the professional in this debate...
September 20, 2016: Human Mutation
Greg Stapleton
In the near future developments in non-invasive prenatal testing (NIPT) may soon provide couples with the opportunity to test for and diagnose a much broader range of heritable and congenital conditions than has previously been possible. Inevitably, this has prompted much ethical debate on the possible implications of NIPT for providing couples with opportunities for reproductive choice by way of routine prenatal screening. In view of the possibility to test for a significantly broader range of genetic conditions with NIPT, the European Society of Human Genetics (ESHG) and American Society of Human Genetics (ASHG) recommend that, pending further debate, prenatal screening for reproductive choice should only be offered where concerning serious congenital conditions and childhood disorders...
September 8, 2016: Medicine, Health Care, and Philosophy
Xiaowei Su, Peter B Kang, James A Russell, Zachary Simmons
Genetic testing is rapidly becoming an increasingly significant part of the diagnostic armamentarium of neuromuscular clinicians. Although technically easy to order, the results of such testing, whether positive or negative, have potentially enormous consequences for the individual tested and for family members. As a result, ethical considerations must be in the forefront of the physician's agenda when obtaining genetic testing. Informed consent is an important starting point for discussions between physicians and patients, but the counseling embedded in the informed consent process must be an ongoing part of subsequent interactions, including return of results and follow-up...
September 12, 2016: Muscle & Nerve
Jeffrey R Botkin
PURPOSE OF REVIEW: Developments in genetic test technologies enable a detailed analysis of the genomes of individuals across the range of human development from embryos to adults with increased precision and lower cost. These powerful technologies raise a number of ethical issues in pediatrics, primarily because of the frequent lack of clinical utility of genetic information, the generation of secondary results and questions over the proper scope of parental authority for testing. RECENT FINDINGS: Several professional organizations in the fields of genetics and pediatrics have published new guidance on the ethical, legal, and policy issues relevant to genetic testing in children...
September 6, 2016: Current Opinion in Pediatrics
Kieran C O'Doherty, Emily Christofides, Jeffery Yen, Heidi Beate Bentzen, Wylie Burke, Nina Hallowell, Barbara A Koenig, Donald J Willison
BACKGROUND: Health research increasingly relies on organized collections of health data and biological samples. There are many types of sample and data collections that are used for health research, though these are collected for many purposes, not all of which are health-related. These collections exist under different jurisdictional and regulatory arrangements and include: 1) Population biobanks, cohort studies, and genome databases 2) Clinical and public health data 3) Direct-to-consumer genetic testing 4) Social media 5) Fitness trackers, health apps, and biometric data sensors Ethical, legal, and social challenges of such collections are well recognized, but there has been limited attention to the broader societal implications of the existence of these collections...
2016: BMC Medical Ethics
Stella K Kang, Kayte Spector-Bagdady, Arthur L Caplan, R Scott Braithwaite
Incidental and secondary findings have become an important by-product of diagnostic testing, and their ramifications affect clinical care, research, and policy. Given parallels in the reporting and management of such findings on diagnostic imaging, radiologists may draw from ongoing discussions in medical genetics to rethink more patient-centered approaches to analogous clinical, ethical, and medicolegal dilemmas. Low-risk incidental findings in particular may be drivers of unnecessary testing, invasive procedures, and overtreatment, with associated financial, psychological, and clinical consequences...
August 25, 2016: Journal of the American College of Radiology: JACR
Sarah Adelsperger, Cynthia A Prows, Melanie F Myers, Cassandra L Perry, Ariel Chandler, Ingrid A Holm, John A Lynch
Concerns about the ethical and social implications of genetics persist as more applications of genetic and genomic technology have become available. Pediatric testing for genetic influences on response to opioids like codeine is one area of application. We interviewed parents of children enrolled in a mixed-methods study following the communication of actual or hypothetical results for CYP2D6, which impacts opioid response. Forty-one parents of children naive to opioids and 42 parents of children previously exposed to opioids participated in qualitative interviews...
August 30, 2016: Health Communication
Travis Hyams, Deborah J Bowen, Celeste Condit, Jeremy Grossman, Megan Fitzmaurice, Deborah Goodman, Lari Wenzel, Karen L Edwards
BACKGROUND: The practice of biorepository-based genetics research raises questions related to what ethical obligations researchers have to their participants. It is important to explore and include the thoughts of current biorepository participants as we move forward with this type of research. METHODS: Thirty participants (17 cancer patients, 7 cancer-free controls, and 6 relatives) were drawn from the Northwest Cancer Genetics Registry and participated in qualitative interviews lasting between 45 and 90 min...
2016: Public Health Genomics
Kristina A Davis, Lauren B Smith
Electronic health records (EHR) now include patient portals where patients can obtain clinical reports, including notes, radiology reports, and laboratory/anatomic pathology results. Although portals increase patient access to information, no guidelines have been developed for hospitals about appropriate delays in posting different types of pathology reports to the EHR. Delays exist as a matter of policy to allow physicians time to answer questions and provide emotional support when discussing sensitive results with patients...
2016: AMA Journal of Ethics
Kristien Hens, Hilde Peeters, Kris Dierickx
The search for genes that can explain the development of autism is ongoing. At the same time, genetic counselling and genetic testing can be offered to families with a child diagnosed with autism. However, given the complexity of autism, both with respect to its aetiology as well as with respect to its heterogeneity, such genetic counselling and testing raises specific ethical questions regarding the aim and scope. In order to map these questions and opinions we interviewed 15 Belgian autism professionals. We found that they believed that genetic counselling and genetic testing have certain benefits for families confronted with an autism diagnosis, but also that direct benefit to the child is limited to those cases where a genetic finding offers a certain prognosis and intervention plan...
September 2016: European Journal of Medical Genetics
Ryan E Lawrence, Phoebe Friesen, Gary Brucato, Ragy R Girgis, Lisa Dixon
BACKGROUND: Genetic tests for schizophrenia may introduce risks and benefits. Among young adults at clinical high-risk for psychosis, little is known about their concerns and how they assess potential risks. METHODS: We conducted semi-structured interviews with 15 young adults at clinical high-risk for psychosis to ask about their concerns. RESULTS: Participants expressed concerns about test reliability, data interpretation, stigma, psychological harm, family planning, and privacy...
2016: AJOB Empirical Bioethics
Lorraine Cowley
This article is based on a qualitative empirical project about a distinct kinship group who were among the first identified internationally as having a genetic susceptibility to cancer (Lynch Syndrome). 50 were invited to participate (42 were tested; eight declined genetic testing). 15, who had all accepted testing, were interviewed. They form a unique case study. This study aimed to explore interviewees' experiences of genetic testing and how these influenced their family relationships. A key finding was that participants framed the decision to be tested as 'common sense'; the idea of choice around the decision was negated and replaced by a moral imperative to be tested...
October 2016: Bioethics
Annika Höcker, Miriam Rabeling, Alexandra Bick, Linda Cox, Maximiliane Kreuzer, Andrea Engler, Kai Walstein, Hagen S Bachmann, Karl-Heinz Jöckel, Lewin Eisele, Michael Adamzik, Jürgen Peters, Simon T Schäfer
BACKGROUND: Hypoxia-inducible-factor-1α (HIF-1α) and HIF-1 degrading prolyl-hydroxylases (PHD) are key regulators of the hypoxic-inflammatory response. Functionally active genetic variants in the HIF-1α (C/T; Single Nucleotide Polymorphism (SNP) rs11549465) and the PHD2 gene (EGLN1; C/T; SNP rs516651 and T/C; SNP rs480902) are associated with altered HIF-1α mRNA nuclear translocation and an altered adaptation to hypoxia. Furthermore, the HIF system is important in surviving inflammatory disorders and sepsis...
2016: BMC Anesthesiology
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