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PubMed2003

It's only teeth - are there limits to genetic testing?

Dental genetic disorders can cause severe social and psychological effects in affected individuals. The cost of treatment can be considerable, not only in financial terms but also in time spent during treatment. In theory it is, or will soon be, possible to use advances in molecular genetics for pre-natal testing, for selection of embryos using in vitro fertilization techniques, and for gene therapy. The questions we pose are whether these approaches are appropriate. We hope that this review will stimulate debate on these issues.

Amelogenesis Imperfecta↗
PubMed1999

Surrogate decision making for genetic testing for Alzheimer disease.

Genetic tests are commercially available for the purpose of aiding in the differential diagnosis of Alzheimer disease among patients with dementia. Such patients often lack the mental capacity to consent to or reject such testing. If genetic testing is to be undertaken, it is important legally and ethically to consider who should participate in the decision to test. State law and the patient's previously expressed wishes will determine which individual should serve as the surrogate decision maker. Other family members should be included in the discussion of the decision, and their assent to the surrogate's decision should be sought.

Alzheimer Disease↗
PubMed2026

Genetic testing and reporting: What the endocrinologists should know and can expect (Joint position paper of the ENDO-ERN).

Over the last decade, next generation sequencing (NGS) has become an essential tool for diagnostic DNA testing in human genetics. To improve the understanding of available genetic testing strategies and to facilitate the request of genetic testing in daily endocrine practice, clinical and laboratory experts in the field have summarized the major issues which should be known and considered. In this joint position paper of the ENDO-ERN, the roles and responsibilities of the health care professionals involved in the diagnostic workflow are described, and the major issues concerning genetic testing workflows are overviewed. These issues encompass all relevant steps, including test request and pre-analytical procedures, laboratory and data processing workflows, quality assurance, and reporting. As NGS procedures result in an increasing number of variants of unknown significance and incidental findings, these aspects are addressed as well. Accompanied by illustrations of the genetic diagnostic workflow and of concise reports for a fast orientation about the major aspects of genetic testing, this joint paper should support the health care professionals during a request for genetic testing.

VUS↗
PubMed1999

Apocalypse...now? Molecular epidemiology, predictive genetic tests, and social communication of genetic contents.

The author analyzes the underlying theoretical aspects in the construction of the molecular watershed of epidemiology and the concept of genetic risk, focusing on issues raised by contemporary reality: new technologies, globalization, proliferation of communications strategies, and the dilution of identity matrices. He discusses problems pertaining to the establishment of such new interdisciplinary fields as molecular epidemiology and molecular genetics. Finally, he analyzes the repercussions of the social communication of genetic content, especially as related to predictive genetic tests and cloning of animals, based on triumphal, deterministic metaphors sustaining beliefs relating to the existence and supremacy of concepts such as 'purity', 'essence', and 'unification' of rational, integrated 'I's/egos'.

Genetic Markers↗
PubMed1995

Genetic testing and insurance. The Ad Hoc Committee on Genetic Testing/Insurance Issues.

The rapid expansion of opportunities for genetic testing has been accompanied by complex questions about the appropriate relationships between providers, patients, and insurers. Some of these questions involve large public-policy decisions, such as whether the government should guarantee access to health care for all citizens. Universal access to health care, without regard to past, present, or future risk of disease, could eliminate risk-oriented underwriting in health-care coverage. A positive response to that question will ameliorate other problems. Until universal access is reality, genetic testing and genetic diagnosis will raise important issues for the practicing geneticist. How much does a client need to know about insurance implications before consenting to a genetic test? Should patients be counseled to purchase insurance before being tested? Should genetic information be excluded from medical records before their release to insurance companies for routine reimbursements or underwriting? What are the ethical and legal responsibilities of the geneticist?

Confidentiality↗
PubMed1999

A practical guide for the validation of genetic tests.

The unique aspects of genetic testing, such as the rarity of genetic disorders, lack of other tests for comparison, and heterogeneity and incomplete penetrance of some genetic diseases, make the validation of genetic tests a challenge in many instances. Although many organizations concerned with clinical laboratory testing and genetic testing in particular have acknowledged the need for validation of genetic tests prior to their introduction into routine practice, no guidelines exist on how to perform the validation of a genetic test. Given such difficulties faced by those involved in genetic testing, we present here a practical guide for the validation of genetic tests, compiled from the suggestions of several laboratorians involved in genetic testing and several officials involved in the oversight of laboratory testing in the United States.

Diagnostic Errors↗
PubMed2003

Genetic testing and its implications: human genetics researchers grapple with ethical issues.

To better understand ethical issues involved in the field of human genetics and promote debate within the scientific community, the author surveyed scientists who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. This study contributes systematic data on attitudes of scientific experts. The survey finds respondents are highly supportive of voluntary testing and the right to know one's genetic heritage. The majority consider in utero testing and consequent pregnancy termination acceptable for cases involving likelihood of serious disease but disapprove for genetic reasons they consider arbitrary, leaving a gray area of distinguishing between treatment of disorders and enhancement still to be resolved. While safeguarding patient confidentiality versus protecting at-risk third parties (kin, reproductive partners) presents a dilemma, preserving privacy from misuse by institutional third parties (employers, insurers) garners strong consensus for legislation against discrimination. Finally, a call is made for greater genetic literacy.

Abortion, Eugenic↗
PubMed1999

Special issues in genetic testing for Alzheimer disease.

Genetic testing for Alzheimer disease (AD) raises two issues that are, thus far, unusual. First, genetic testing of dementia patients for diagnostic purposes necessarily leads to information of some predictive significance for the patient's family members. What information about the test results should be disclosed to whom needs careful consideration. Testing for a patient's apolipoprotein E (APOE) allele status was used, both in research and clinically, as a predictor of cardiovascular risk long before it was known to be associated with AD risk. Whether and how information about the newly understood AD implications of the test should be provided to those who were tested for cardiovascular risk needs attention, as does the general problem of new, and possibly less benign, meanings for old genetic test results.

Alzheimer Disease↗
PubMed2002

[External quality assessment of the genetic testings for hematopoietic tumor, CML].

Genetic testings are commonly employed in various fields of clinical medicine and the test items performed at clinical laboratories are increasing rapidly in number. They are utilized to make early and/or definite diagnoses of infectious diseases, leukemia, cancers and molecular inherited diseases and also to monitor the progress of the diseases. However, these genetic testings except for infectious diseases have been developed independently at each clinical laboratory and the test results obtained at each laboratory are not always compatible each other. Under these situations it is widely expected to construct advanced genetic testing systems that can supply standardized data at any of domestic and international clinical laboratories. For the period from April, 1999 to March, 2002 three major clinical laboratories, SRL, Inc., BML, Inc. and MBC, Inc., were consigned by JBA (Japan Bioindustry Association) to collaborate in standardizing the evaluation methods for genetic testing systems among the clinical laboratories. The aim of the study is to develop the standardized genetic testing systems and to propose them as international standard operational procedures to the ISO/TC212 working group. Although one of the most important issues for standardization is the external quality assessment, they have not been carried out in reality. In this study we evaluated the difference of the genetic testing results obtained during the year of 2000 and 2001 among the clinical laboratories. The genetic testings for hematopoietic tumor, CML were selected to be evaluated since they are widely accepted as clinically useful tests.

Blotting, Southern↗
PubMed2000

[Genetic tests: predict or curse].

Genetic testing is aimed to the goal of i) confirming the diagnosis of a genetic disease in an affected individual and ii) of determining the status of relatives and the genetic risk to the progeny. Genetic testing also allows to determine whether an at risk individual is the carrier of the disease gene prior to symptoms. Genetic tests should be carried out for the benefit of the patients only. They deserve extensive preliminary explanation and informed consent of the subjects, gathered during a genetic counseling consultation.

Family↗
PubMed2005

Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: genetic testing for cardiac electropathies.

The sentinel descriptions of congenital long QT syndrome (LQTS) under the eponyms of Jervell and Lange-Nielsen syndrome and Romano-Ward syndrome were provided in 1957 and the early 1960s. In 1995, the discipline of cardiac channelopathies was birthed formally with the landmark discoveries of cardiac channel mutations as the pathogenic basis for LQTS. Over the past decade, the discipline has expanded considerably being comprised of at least a dozen distinct heritable arrhythmia syndromes, several disease-susceptibility genes, and hundreds of implicated mutations. Previously confined to the purview of research testing, diagnostic genetic testing for several channelopathies is now available for routine clinical use.

Child↗
PubMed2002

Advise or consent? Issues in genetic testing of adolescents.

Medical genetics is a rapidly advancing field, and genetic testing is becoming readily accessible as well as more sophisticated. Genetic testing has the potential to be both harmful and beneficial in terms of physical, psychosocial, and reproductive health. Ethical and legal implications of genetic testing are profound and particularly confounding in children and adolescents. This chapter discusses points to consider in evaluating the potential benefit and harm of the decision to undergo testing in adolescence.

Adolescent↗
PubMed2004

Ethical issues in the diagnostic genetic testing process.

The diagnostic genetic testing process has certain unique ethical features and deserves special consideration. The purpose of this study was to determine through empirical research, using focussed interview, what ethical issues are involved in the diagnostic genetic testing process. This article describes views and perceptions of adult patients, parents of child patients and various personnel groups (n=30). The ethical issues were analysed classified into three main categories: a) personnel characteristics, including personality, professional skills, morals and values; b) realization of ethical principles in the examination process, with subcategories of knowledge, autonomy, data protection and equity; and c) consequences of genetic testing, including patients' control over their own lives, manifestation of heterogeneity and outlook on the world. Problematic ethical issues in all three main categories were described in a more many-sided way by parents and personnel than by adult patients. In the future, attention should be paid to the content areas highlighted by the study, in both clinical practice and further studies.

Adult↗
PubMed2001

Quality control in molecular genetic testing.

DNA-based testing for genetic diseases has developed from nothing into a principal part of laboratory medicine over the past 15 years. In the rush to bring these powerful new technologies into medical use, issues of quality have not always been given sufficient attention. Efforts are now being made to assess the quality of the output of genetic testing laboratories, and the results show that there is room for improvement.

Accreditation↗
PubMed2006

What do we tell the children? Contrasting the disclosure choices of two HD families regarding risk status and predictive genetic testing.

Above all else, predictive genetic testing provides information. Gaining insight into the psychosocial effects of this information is a primary goal of genetic counseling. For individuals utilizing predictive genetic testing, the acquisition of genetic information requires choices regarding disclosure within the family. This study uses a phenomenological methodology to explore the contrasting choices of two sets of HD parents regarding the disclosure of genetic risk status to their children. Additionally, the children (now adults) discuss their lived experience growing up with contrasting disclosure dynamics, and their current views regarding the use of predictive genetic testing for themselves. The primary finding of this study is that all of the adult children now express preference for early disclosure of genetic risk and an open/supportive communication style regarding HD. This finding has value for clinicians working with HD families who must make decisions regarding disclosure issues related to predictive genetic testing.

Adaptation, Psychological↗
PubMed2001

Creating needs? A review of survey data and concerns relevant to the commercialization of genetic testing.

An increasing number of genetic tests are moving from the laboratory to the clinical setting. It seems an appropriate time to assess the interest and receptivity of the public toward genetic testing services. This is particularly so given the concerns that have been expressed about the commercialization of genetic testing technologies. To this end, the paper begins with an overview of the concerns and benefits associated with commercialization. This is followed by a review of a selection of survey data relevant to the potential 'genetic testing market' (i.e., the attitudes, perceptions and knowledge of the public, patients and professionals). We conclude that although emerging data and past experience suggest that the actual uptake of genetic tests may fall short of expectations, the strong public interest and perceived right of access disclosed in the survey research indicate a future potential for a large testing market. As such, the concerns associated warrant careful consideration.

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