'Over-the-counter' genetic testing: what does it really mean for primary care?

Maggie Kirk, Imran Rafi, Nadeem Qureshi, Anneke Lucassen, Michael Modell, Frances Elmslie, Joe Kai, Nigel Starey, Sheila Goff, Paul Brennan, Shirley Hodgson

Research output: Contribution to journalArticlepeer-review


The publication of More Genes Direct by the Human Genetics Commission is a timely reminder of the potential impact that ‘over-the-counter’ genetic testing (that is, a direct genetic test without the need for a medical referral) may have on the NHS. This article considers the relevance of current genetic research on complex common diseases and how this might translate into risk estimates for developing conditions such as dementia, cancer, and cardiovascular disease. The implications for primary care include the need to understand the current limitations of genetic testing and its commercial application over the counter, and the importance of continuing to make risk assessments using family history. The authors recommend caution in the premature introduction of over-the-counter testing without a sound evidence base.
Original languageEnglish
Pages (from-to)283 - 287
Number of pages4
JournalBritish Journal of General Practice
Issue number561
Publication statusPublished - 16 Sept 2008


  • general practice
  • genetics
  • genetic testing
  • over-the-counter


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