Bmj Usa: Editor's Choice

The promise of medical genetics

BMJ 2003; 327 doi: (Published 19 November 2003) Cite this as: BMJ 2003;327:E37

This article originally appeared in BMJ USA

The talk about medical genetics is marked by hype as much as hope. When President Bill Clinton announced the completion of the first working draft of the human genome in June 2000, he stated, “It is now conceivable that our children's children will know the term ‘cancer’ only as a constellation of stars.” The British health secretary recently proclaimed that with developments in genetics, “The NHS [National Health Service] of the future should increasingly allow us to predict and prevent the common diseases of life.” (The editor of BMJ replied that “The unfortunate implication is that we will all be left to die of rare diseases unless ‘the NHS of the future’ eradicates death.”)

To help doctors understand the realistic promises of the genetics revolution, and how to apply them in clinical practice, the BMJ devoted its April 28th issue to genetics in medicine. In this edition of BMJ USA, we republish many of the papers from that special issue. Emery and Hayflick explore the challenge of integrating genetic medicine into primary care (BMJ USA p 326). Evans et al discuss the complexities of predictive genetic testing (BMJ USA p 321). Marteau and Lerman review the evidence on whether the results of predictive genetic tests will motivate people to change their behavior to lower their risk of disease (BMJ USA p 313). Another paper analyzes web-based information on medical genetics (BMJ USA p 339).

Should mammography be recommended for women under the age of 50 with a family history of breast cancer? Lucassen et al conclude that mammography should be offered if the family history equates to a threefold increase in the risk of breast cancer by the age of 50 compared with the general population (BMJ USA p 331). In a “rapid response,” Greiver points out that the National Cancer Institute's Breast Cancer Risk Assessment Tool (which can be downloaded to a PC or Palm PDA) is ideally suited to giving advice about mammography to young women (BMJ USA p 334).

Of course we would not have genetics without sexual reproduction. In this issue of BMJ USA we give you a paper from the BMJ's 1999 Christmas issue, in which Dutch investigators describe magnetic resonance imaging of male and female genitals during coitus (BMJ USA p 342). That paper won the BMJ an Ig Nobel prize as an achievement that “cannot or should not be reproduced” (

Emery and Hayflick (BMJ USA p 326)

Evans et al (BMJ USA p 321)

Marteau and Lerman (BMJ USA p 313)

Pagon et al (online medical genetics) (BMJ USA p 339)

Lucassen et al (BMJ USA p 331)

Rapid response to paper by Lucassen et al (BMJ USA p 334)

Schultz et al (BMJ USA p 342)

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