Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities

Abstract

ESHG background document genetic testing and common disorders F Becker et al S10 European Journal of Human Genetics Knowledge of test Feasibility of screening procedures Suitable test or examination. Suitable test or examination. Test acceptable to the population. Entire screening procedure acceptable to the population. Case finding should be a continuing process and not 'once and for all' project. Screening should be a continuing process and should encompass all elements of screening procedures. Treatment for disease Interventions and follow-up Accepted treatment for patients with recognized disease. Interventions that have physical, psychological, and social net benefit available. Facilities for diagnosis and treatment available. Facilities for adequate surveillance, prevention, treatment, education, counselling, and social support available. Agreed on policy concerning whom to treat as patients. Consensus on accepted management for those with positive test results. Cost considerations Societal and health system issues Costs of case finding (including diagnosis and treatment of patients diagnosed) economically balanced in relation to possible expenditures on medical care as a whole. Costs should be balanced in economic, psychological, social, and medical terms and with health-care expenditures as a whole. Appropriate screening services accessible to the entire population, without adverse consequences for non-participants. Appropriate confidentiality procedures and antidiscrimination provisions for participants and non-participants. a Ethical, legal, and sociobehavioral issues are considered across all domains. Screening should be considered within a framework that recognizes fundamental human rights.

A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands

“…Policy researchers suggest that genetic testing or screening for common disorders including diabetes might be added to the existing procedures in primary care, through cooperation between primary and specialist care. 22 This may require help from intermediary organizations, as for example in a screening programme for familial hypercholesterolemia. 22,23 Directions for future research To better understand the current use of genetic testing for MODY, several approaches could be taken.…”

“…22 This may require help from intermediary organizations, as for example in a screening programme for familial hypercholesterolemia. 22,23 Directions for future research To better understand the current use of genetic testing for MODY, several approaches could be taken. Qualitative research can reveal doctors' valuation of the test on the one hand and patients' and family members' response to an offer of genetic testing on the other hand (early experiences have been described previously).…”

Prédisposition génétique aux cancers du sein et de l’ovaire

“…d'innovations technologiques de plus en plus accessibles et de plus en plus attractives, car couvrant tous les secteurs de la santé, de la maladie et de la vie au sens large, renforce la nécessité, très bien ar gumentée par de nombreuses réflexions actuelles [31,41,42] …”

The challenge of implementing genetic tests with clinical utility while avoiding unsound applications

“…Though this paved the way to a better understanding of the pathogenesis and etiology of common complex disorders such as type 2 diabetes, stroke, and obesity, the magnitude of the estimated genetic effects of many variants is not relevant for health purposes (Becker et al 2011). In the light of the increasing amount of genomic information available, appropriate translation of those research findings that do have an impact in health care is crucial.…”

“…For a full discussion, we kindly refer to these original documents. The first document is a background document on genetic testing in a public health framework (Becker et al 2011). This document provides a reflection on the paradigm shift in the field of human genetics from rare monogenic to common disorders with a genetic component.…”