PHG Foundation

al idea of extending this scheme to include genetic screening of all babies at birth?

In its Genetics White Paper of June 2003, the Government asked the Human Genetics Commission (HGC) to work with the (NSC) to consider the genetic profiling of newborns by the NHS.

The idea is that DNA samples from new babies could be used to create and store a genetic profile (whether key health-related genetic information or, in theory, a complete genome sequence) to form part of their NHS electronic patient record. This genetic reference could potentially be used to tailor treatments and direct preventative interventions as and when clinically useful knowledge about genetic influences on health emerges.

There are numerous barriers to the implementation of such a plan. Foremost among these is the current lack of clinical utility; whilst our understanding of genetic influences on health and disease is rapidly increasing, with the exception of some genetic mutations known to be associated with inherited diseases (such as cystic fibrosis) or significantly increased risk of specific disorders (such as the BRCA1/2 mutations and breast cancer), we do not yet have the ability to reliably pinpoint valid genetic markers associated with health outcomes.

Even if such information were available and the clinical benefits proven - and research in this area is ongoing - the ethical basis for potentially performing compulsory genetic testing of children incapable of giving informed consent would be hotly contested.

Similarly, the legal and societal ramifications surrounding the scheme would be enormous. Consider, say, the potential for genetic discrimination against children effectively labelled by their DNA at birth, and the creation of a genetic underclass.

The White Paper noted the need for 'public debate on many of the wider issues' before launching a newborn genetic profiling programme, and requested the HGC to perform an initial analysis of ethical, social, scientific, economic, and practical considerations.

Reporting to the HGC recently, scientists have claimed that in the future, by accessing a patient's genetic profile, health providers could help them reduce the risk of heart attacks, diabetes, or other genetically related illnesses. How far ahead such abilities lie is a matter of debate, but why should this require genetic profiling at birth?

An informed and consenting adult might reasonably agree to specific genetic tests being performed to aid his or her healthcare provider in producing an individualised health assessment, but this situation is far removed from genetic profiling of newborns. Moreover the economic basis for such a plan is questionable. Why devote resources to the storage and analysis of genetic information for every individual, on the basis that some of that information might one day potentially have some influence on their healthcare? Far better, surely, to fund genetic testing for each individual as and when it was available and appropriate.

In fact, the true benefits of genetic profiling of newborns would most likely be the identification of significant associations between genetic markers and disease risks that could be generated by studying such a large group of people over time.

However, the potential benefits to future generations, whilst desirable, should not be misinterpreted as imminent advances in healthcare, nor blind us to potential problems. A report on the findings of the HGC is due to be released by the end of the year.


Dr Philippa Brice is Scientific Officer, Public Health Genetics Unit, Cambridge Genetics Knowledge Park.


1 June 2004

This article first appeared in Biolines, a fortnightly biotechnology column emphasising legal, ethical and social issues.