Genetics, Health Care and Public Policy

Abstract

Genetics, Health Care and Public Policy is an introduction to the new discipline of public health genetics. It brings together the insights of genetic and molecular science as a means of protecting and improving the health of the population. Its scope is wide and requires an understanding of genetics, epidemiology, public health and the principles of ethics, law and the social sciences. This book sets out the basic principles of public health genetics for a wide audience from those providing health care to those involved in establishing policy. The emphasis throughout the text is on providing an accessible introduction to the field. The content moves from the basic concepts, including definitions and history, through chapters on genetics, genetic technology, epidemiology, genetics in medicine, genetics in health services, ethical, legal and social implications, to the implications for health policy. It provides one-stop, introductory coverage of this rapidly developing and multidisciplinary field.

Advances in prenatal screening: the ethical dimension

“…On a societal level, the proportionality of prenatal screening is also a matter of costeffectiveness 48 . With ever-broader testing, this becomes more complicated than when prenatal screening was still directed at a few serious abnormalities, such as Down's syndrome -the costs of which for society are high, and the detection of which leads to, in most cases, a termination of pregnancy.…”

Rapid aneuploidy detection or karyotyping? Ethical reflection

“…Though these are not strictly speaking monogenic diseases, they are conditions in which a monogenic factor does determine a considerable proportion of the risk. Such 'Mendelian variants of complex diseases' 61 have a certainly incomplete but often high penetrance. [62][63][64][65] In the same way, new information about the treatment of congenital metabolic disorders and other recessively inherited conditions that manifest in childhood could put the issue of expanding existing neonatal screening on the agenda.…”

Community genetics: 1998–2009…and beyond

“…In this regard, the endeavour of public health genomics obviously also involves a potential tension between the aim of evidence-based interventions and a focus on individual decision making and personal responsibility. Compared to community genetics, this tension may become even more challenging because in public health genomics, as authors about the field contend, “it may be several decades before the scientific basis for the ‘predict and prevent’ scenario can be adequately evaluated” (Stewart et al 2007 ). In other words, the so-called “translation highway” of genomics in public health appears to be a long and winding road to a distant and uncertain future (Gwinn and Khoury 2006 ; Khoury et al 2007 and 2008 ).…”