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PubMed1999

Secretary's advisory committee on genetic testing: its emerging role in public policy deliberation on genetic tests.

The Secretary's Advisory Committee on Genetic Testing (SACGT) was established by the U.S. Secretary of Health and Human Services, Donna E. Shalala, to provide a public forum for the formulation of policy advice in the complex and growing area of genetic testing. After a careful nomination and selection process, the Secretary announced the appointment of thirteen advisors to the SACGT in June 1999. The first meeting of the SACGT was held June 30, 1999. This article describes the purpose, formation, and function of the SACGT. Before addressing these questions about the role of the SACGT, we first will explain what genetic testing is, how it is currently used, and what new uses it may be put to in the future.

Advisory Committees↗
PubMed2000

The challenge of validating genetic testing.

Validation of genetic testing is a multidisciplinary task that involves medical/clinical geneticists, other medical specialists, legislative authorities and the public. It is an area in which many issues are unresolved. Validation should not focus on the laboratory process alone, but should also include the prerequisites for service delivery, such as education and staffing, data collection and banking and information transfer, as well as pre- and post-test genetic counselling in a cost-effective perspective. It must thus be seen as an ongoing process at laboratory, familial and societal levels which involves many different actors. The challenges for the near future are to continue to develop technical standards for the laboratory and counselling procedures, and, in collaboration among professionals, lay persons and state authorities, to define a legal framework for the actions of the various players. This chapter discusses some problems related to the validation process for genetic testing, broadly defined.

Genetic Counseling↗
PubMed2006

Protocol for stage 1 of the GaP study (Genetic testing acceptability for Paget's disease of bone): an interview study about genetic testing and preventive treatment: would relatives of people with Paget's disease want testing and treatment if they were available?

BACKGROUND: Paget's disease of bone (PDB) is characterised by focal increases in bone turnover, affecting one or more bones throughout the skeleton. This disrupts normal bone architecture and causes pain, deformity, deafness, osteoarthritis, and fractures. Genetic factors are recognised to play a role in PDB and it is now possible to carry out genetic tests for research. In view of this, it is timely to investigate the clinical potential for a programme of genetic testing and preventative treatment for people who have a family history of PDB, to prevent or delay the development of PDB. Evidence from non-genetic conditions, that have effective treatments, demonstrates that patients' beliefs may affect the acceptability and uptake of treatment. Two groups of beliefs (illness and treatment representations) are likely to be influential. Illness representations describe how people see their illness, as outlined in Leventhal's Self-Regulation Model. Treatment representations describe how people perceive potential treatment for their disease. People offered a programme of genetic testing and treatment will develop their own treatment representations based on what is offered, but the beliefs rather than the objective programme of treatment are likely to determine their willingness to participate. The Theory of Planned Behaviour is a theoretical model that predicts behaviours from people's beliefs about the consequences, social pressures and perceived control over the behaviour, including uptake of treatment. METHODS/DESIGN: This study aims to examine the acceptability of genetic testing, followed by preventative treatment, to relatives of people with PDB. We aim to interview people with Paget's disease, and their families, from the UK. Our research questions are:1. What do individuals with Paget's disease think would influence the involvement of their relatives in a programme of genetic testing and preventative treatment? What do relatives of Paget's disease sufferers think would influence them in accepting an offer of a programme of genetic testing and preventative treatment? DISCUSSION: Our research will be informed by relevant psychological theory: primarily the Self-Regulation Model and the Theory of Planned Behaviour. The results of these interviews will inform the development of a separate questionnaire-based study to explore these research questions in greater detail.

Adult↗
PubMed1999

Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis.

OBJECTIVE: To provide health care providers, patients, and the general public with a responsible assessment of the optimal practices for genetic testing for cystic fibrosis (CF). PARTICIPANTS: A nonfederal, nonadvocate, 14-member panel representing the fields of genetics, obstetrics, internal medicine, nursing, social work, epidemiology, pediatrics, psychiatry, genetic counseling, bioethics, health economics, health services research, law, and the public. In addition, 21 experts from these same fields presented data to the panel and a conference audience of 500. EVIDENCE: The literature was searched through MEDLINE, and an extensive bibliography of references was provided to the panel and the conference audience. Experts prepared abstracts with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience. CONSENSUS PROCESS: The panel, answering predefined questions, developed its conclusions based on the scientific evidence presented in open forum and the scientific literature. The panel composed a draft statement that was read in its entirety and circulated to the experts and the audience for comment. Thereafter, the panel resolved conflicting recommendations and released a revised statement at the end of the conference. The panel finalized the revisions within a few weeks after the conference. CONCLUSIONS: Genetic testing for CF should be offered to adults with a positive family history of CF, to partners of people with CF, to couples currently planning a pregnancy, and to couples seeking prenatal care. The panel does not recommend offering CF genetic testing to the general population or newborns. The panel advocates active research to develop improved treatments for people with CF and continued investigation into the understanding of the pathophysiology of the disease. Comprehensive educational programs targeted to health care professionals and the public should be developed using input from people living with CF and their families and from people from diverse racial and ethnic groups. Additionally, genetic counseling services must be accurate and provide balanced information to afford individuals the opportunity to make autonomous decisions. Every attempt should be made to protect individual rights, genetic and medical privacy rights, and to prevent discrimination and stigmatization. It is essential that the offering of CF carrier testing be phased in over a period to ensure that adequate education and appropriate genetic testing and counseling services are available to all persons being tested.

Consensus↗
PubMed2025

Noninvasive preimplantation genetic testing for aneuploidy using blastocyst spent culture medium may serve as a backup of trophectoderm biopsy in conventional preimplantation genetic testing.

BACKGROUND: To investigate whether the noninvasive preimplantation genetic testing (niPGT) complement conventional preimplantation genetic testing (PGT) in the embryos for aneuploidy. RESULTS: 40 spent culture medium (SCM) samples from routine embryo culture were collected, and half of each SCM (10 µL) sample was used for whole genome amplification, while the other half was stored at -80 °C for 3-6 months. Thirty-six out of 40 fresh SCM samples were successfully amplified and sequenced. Thirty-six paired frozen-thawed SCM samples showed 100% concordance with the freshly amplified SCM samples. Then, SCM and trophectoderm (TE) samples from 149 blastocysts from 51 couples were collected. A 98.0% successful SCM sample amplification rate (146/149) was achieved. For the 146 paired TE biopsy and SCM samples, the overall concordance rate was 82.9% (121/146). Ten embryos with aneuploid TE results but euploid niPGT results were donated. A 70.0% (7/10) true negative rate was achieved by niPGT with respect to the inner cell mass (ICM) results (TE-positive embryos). CONCLUSIONS: These results suggested that SCM stored at -80 °C for 6 months without affecting niPGT results based on NICSInst amplification.

Humans↗
PubMed1999

Good gene hunting: commercializing safety and efficacy of home genetic test kits.

The rapid advancement of genetic identification as a means of diagnosing or identifying the existence of a genetic trait for preventative and reproductive concerns should compel legal experts to determine whether there is sufficient safety and efficacy in genetic tests. Genetic testing has been used by physicians for a number of years to enhance their allopathic practice. Specifically, genetic tests are now being considered as aids in understanding the development and proliferation of certain diseases in society as a whole, and in specific ethnic and familial groups. The purposes of this paper are to: (1) articulate what genetic testing offers, by way of definition and scope; (2) identify statutory and regulatory limitations on the development, distribution, and use of genetic tests; and (3) consider whether the potential availability of home genetic tests should be made accessible to the American public. This paper will further provide a proposed regulation to encourage the development and distribution of home genetic tests.

Biotechnology↗
PubMed2005

Genetic testing: who should do the testing and what is the role of genetic testing in the setting of celiac disease?

Celiac disease is a remarkable and common immune-mediated disorder determined by both the presence of characteristic HLA alleles (DQ2 and DQ8) and one of the best characterized environmental factors (gliadin) for any common autoimmune disease. The discovery of transglutaminase autoantibodies and the development of assays for these antibodies has allowed the identification of a large number of asymptomatic individuals with autoimmunity and intestinal biopsy evidence of celiac lesions. Further understanding of the sequelae of asymptomatic celiac disease, and the interaction between genetic susceptibility and environmental factors, are likely to alter fundamentally both genetic screening for celiac disease and its therapy.

Adult↗
PubMed2002

[Analysis of 14 individuals who requested predictive genetic testing for hereditary neuromuscular diseases].

Predictive genetic testing for hereditary neuromuscular diseases is a delicate issue for individuals at risk and their families, as well as for medical staff because these diseases are often late-onset and intractable. Therefore careful pre- and post-test genetic counseling and psychosocial support should be provided along with such genetic testing. The Division of Clinical and Molecular Genetics was established at our hospital in May 1996 to provide skilled professional genetic counseling. Since its establishment, 14 individuals have visited our clinic to request predictive genetic testing for hereditary neuromuscular diseases (4 for myotonic dystrophy, 6 for spinocerebellar ataxia, 3 for Huntington's disease, and 1 for Alzheimer's disease). The main reasons for considering testing were to remove uncertainty about the genetic status and to plan for the future. Nine of 14 individuals requested testing for making decisions about a forthcoming marriage or pregnancy (family planning). Other reasons raised by the individuals included career or financial planning, planning for their own health care, and knowing the risk for their children. At the first genetic counseling session, all of the individuals expressed hopes of not being a gene carrier and of escaping from fear of disease, and seemed not to be mentally well prepared for an increased-risk result. To date, 7 of the 14 individuals have received genetic testing and only one, who underwent predictive genetic testing for spinocerebellar ataxia, was given an increased-risk result. The seven individuals including the one with an increased-risk result, have coped well with their new knowledge about their genetic status after the testing results were disclosed. None of them has expressed regret. In pre-test genetic counseling sessions, we consider it quite important not only to determine the psychological status of the individual, but also to make the individual try to anticipate the changes in his/her life upon receiving an increased-risk or a decreased-risk result. Sufficient time should be taken to build a good relationship between the individual and his/her family and the medical staff during pre-test counseling sessions. This will help the individuals feel satisfied with their own decisions for the future, whether they receive genetic testing or not.

Adult↗
PubMedDate not supplied

A primer on genetic testing.

Use of genetic tests in the clinical practice setting is a current reality, and an increasing number of patients are asking about and requesting genetic testing. The push to translate genetic research findings and technological innovations into clinical practice will continue as our understanding of the genetic basis of disease increases. Special consideration is required when ordering genetic tests, beyond that of other laboratory tests, and an understanding of the unique aspects involved will help optimize clinical outcomes. The purpose of this primer is to provide a basic understanding of genetic testing, discuss current issues related to the use of tests, and outline practical steps for critically using genetic tests in clinical practice.

Genetic Techniques↗
PubMed2004

Natural settings trials--improving the introduction of clinical genetic tests.

Approaches to genetic testing differ in the research setting and the clinical setting. More data are needed to develop approaches that will best facilitate the use of new genetic tests in the clinical setting, especially settings where genetic testing has not been widely used, such as in primary care. Furthermore, data are needed to establish the clinical utility of new genetic tests in the general practice setting. Natural setting trials are proposed as a strategy to develop this information. While natural setting trials are clinical research studies and will expose participants to some degree of risk, the risks are different, and arguably less than the risks those same individuals would otherwise face if the test went directly into clinical practice. Ultimately, clinical practice and safety of new genetic tests can be improved by adding the evaluation provided by natural setting trials.

Biomedical Research↗
PubMed2002

Working towards ethical management of genetic testing.

Developments in genetic testing and increased public awareness of inherited disease have led to increasing interest in and concern about the ethical issues raised by clinical genetics. We looked at methods for ethical management of genetic testing, and investigated the advantages and limitations of use of ethical guidelines in clinical genetics. We believe that a key element in successful management of genetic testing in addition to guidelines will be availability of ethics training and support for geneticists, nurses, and counsellors. Clinical ethics committees and clinical ethicists can act as a useful focus for such training and advice if their role is seen to be genuinely supportive by health professionals and patients. We also argue that increased public involvement at the national level in policy debate about control of genetic testing is needed.

Adult↗
PubMed2005

DNA-based genetic testing is rising steeply in a national health care system with open access to services: a survey of genetic test use in Germany, 1996-2002.

The extent to which the fast-growing body of genetic knowledge is transferred into everyday clinical practice has nowhere been assessed in a systematic way. Available quantitative analyses of DNA-based genetic test provision and uptake rates are all concerned with specific test programs. The German health-care system is ideally suited for a more general approach, because it is highly flexible regarding access to services, thus permitting quick adjustments to sudden changes in particular subfields of medicine such as genetic testing. We have measured the amount of genetic service provision in Germany between 1996 and 2002 by making use of the central database of the German national health-care system and by inquiring with private health insurance. We can document a three-fold increase of DNA-based testing in the time period 1996-2002, whereas cytogenetic analyses and genetic counseling have remained constant. The growing body of genetic knowledge does indeed seem to be transferred into medical practice at an increasing rate, and the uptake rates are largely in proportion to test offers. DNA-based testing appears to be focussed on disease-associated germ-line alterations.

DNA↗