Population genetic screening programmes: principles, techniques, practices, and policies

Abstract

This paper examines the professional and scientific views on the principles, techniques, practices, and policies that impact on the population genetic screening programmes in Europe. This paper focuses on the issues surrounding potential screening programmes, which require further discussion before their introduction. It aims to increase, among the health-care professions and health policy-makers, awareness of the potential screening programmes as an issue of increasing concern to public health. The methods comprised primarily the review of the existing professional guidelines, regulatory frameworks and other documents related to population genetic screening programmes in Europe. Then, the questions that need debate, in regard to different types of genetic screening before and after birth, were examined. Screening for conditions such as cystic fibrosis, Duchenne muscular dystrophy, familial hypercholesterolemia, fragile X syndrome, hemochromatosis, and cancer susceptibility was discussed. Special issues related to genetic screening were also examined, such as informed consent, family aspects, commercialization, the players on the scene and monitoring genetic screening programmes. Afterwards, these questions were debated by 51 experts from 15 European countries during an international workshop organized by the European Society of Human Genetics Public and Professional Policy Committee in Amsterdam, The Netherlands, 19-20, November, 1999. Arguments for and against starting screening programmes have been put forward. It has been questioned whether genetic screening differs from other types of screening and testing in terms of ethical issues. The general impression on the future of genetic screening is that one wants to 'proceed with caution', with more active impetus from the side of patients' organizations and more reluctance from the policy-makers. The latter try to obviate the potential problems about the abortion and eugenics issues that might be perceived as a greater problem than it is in reality. However, it seems important to maintain a balance between a 'professional duty of care' and 'personal autonomy'.

Carrier screening in preconception consultation in primary care

“…Where appropriate, this discussion should also include the partner. The findings from the variety of literature around population carrier screening would indicate that even though the patient/couple might decide not to be tested at that time, raising their awareness is useful in itself, as the effectiveness of screening should not be measured by test uptake alone (Godard et al 2003). Ideally, this consultation process would occur before the couple becomes pregnant and, if testing is declined at that time, the repeat offer of testing during pregnancy would act as a 'safety net' but, of course, with potential for reduced reproductive options of test-positive couples who would then benefit from discussions with genetics specialists regarding their reproductive choices including prenatal diagnosis.…”

“…Studies exploring carrier screening in primary care have often examined uptake of testing as the main outcome while others have assessed psychosocial parameters including knowledge and attitudes of the couples themselves as well as health practitioners. These studies have centred around genetic conditions found at higher frequencies in particular populations and, therefore, deemed to be appropriate for carrier screening (Godard et al 2003;Delatycki 2008), namely: cystic fibrosis in those of Northern European descent; haemoglobinopathies in a wide range of populations including Southern European, Middle Eastern, African, Indian, Asian and South East Asian descent; Tay-Sachs disease and others in those with Ashkenazi Jewish descent. Carrier screening for fragile X syndrome and, more recently, spinal muscular atrophy have also been performed on unselected populations.…”

BRCA genetic testing of individuals from families with low prevalence of cancer: experiences of carriers and implications for population screening

“…20 It also raises social, ethical, and legal considerations including privacy and confidentiality; stigmatization; discrimination in insurance and employment; and reproductive issues (e.g., using pregestational/prenatal diagnosis to select against BRCA carriers). 21 Psychological aspects of BRCA genetic testing have been studied mostly in women with a personal and/or family history of cancer rather than in women with little or no such history, because the latter are not currently being referred for clinical genetic testing. Therefore, results from these studies cannot be generalized to asymptomatic women belonging to low-cancer-prevalence families.…”

Molecular Epidemiology of Citrullinemia Type I in a Risk Region of Argentina: A First Step to Preconception Heterozygote Detection

“….ethnicity and country specific mutation databases to deliver the most efficient health care" and so would improve geographic and ethnic-specific health care (Appelbe et al 2007). Moreover, Godard et al (2003) established that "carrier screening at antenatal clinics is easy to organize: the risk of being a carrier is of current interests and the partner already exists. .…”