Genetic advances in medicine: has the promise been fulfilled in general practice?

Abstract

Since the completion of the Human Genome Project, remarkable advances have been made in understanding the human genome's contribution to health and disease; the wealth of scientific discovery generated over the past 10 years is unparalleled in the history of biomedicine, and the rate of discovery is accelerating.1 The traditional study of single gene disorders (genetic medicine) has developed into an understanding of how multiple genes interact with environmental factors: genomics. As these advances were initially greeted with high hopes of early clinical benefit, it is timely to reflect on how much of this promise has filtered through to general practice, particularly in light of The Human Genomics Strategy Group's recent report and policy recommendations about the adoption of genomic technology in the NHS.2 The majority of genetic tests in the UK are still for single gene disorders. Of most relevance to general practice are the common autosomal recessive conditions for which carrier and neonatal disease screening are offered. The adoption of new tests and testing strategies in the NHS has followed careful consideration of research evidence, much of which occurred in general practice.3 With advances in technology, particularly tandem mass spectrometry, the range of conditions included within the neonatal blood spot screening test has expanded (see NHS screening website http://www.screening.nhs.uk/bloodspot-england …