A US company offering genetic tests direct to customers has attracted criticism for not offering patients adequate care, the British Medical Journal (BMJ) reports. But DNA Direct, which offers tests for susceptibility to breast and ovarian cancer via the Internet, says it offers customers exactly the same counselling and testing that they would receive at a cancer centre.
Most cases of breast cancer are not inherited, but around 5-10 per cent are due to a mutation in one of two genes, called BRCA1 and BRCA2. DNA Direct will look for one particular gene mutation for a fee of $586 (£306), the three most common mutations found in women of Ashkenazi Jewish ancestry for $627, or carry out a complete 'gene screen' for $3312.
The tests being offered are those developed by US firm Myriad Genetics, which holds patents relating to the BRCA1 and BRCA2 genes. Previous to the deal with DNA Direct, Myriad had only made its tests available via doctors and cancer clinics. 'As far as we're concerned there's still a qualified physician involved at DNA Direct', said Myriad spokesman Bill Rusconi, adding 'in some parts of the country it's darn hard to get a physician'.
Katherine Rauen, the company's consulting medical director, said that DNA Direct was offering 'standard care' for people with a family history suggestive of hereditary breast cancer. After ordering a test from the company online, a woman receives a phone call from a genetic counsellor, who takes a medical and family history. She then receives a test kit by post, which she takes to a local genetic testing laboratory. The test results are given over the phone, again by a genetic counsellor, and a letter is sent to customers explaining the implications of the test result, including information to give to their family doctor.
Rauen says the tests are aimed at women who do not have access to a cancer centre, or as a first step for those who do not like visiting the doctor. But US medical geneticist Georgia Wiesner told the BMJ that she thinks the service is 'poor patient care'. She argues that the process of getting a breast cancer susceptibility test requires such personalisation that it cannot be done adequately over the phone or internet. Francis Collins, head of the US National Human Genome Research Institute, is also concerned about the service, since it cuts out family doctors. 'As often is the case, science is running ahead of public policy', he commented. DNA Direct is also offering diagnostic tests for Alpha-1 antitrypsin deficiency, thrombophilia and haemochromatosis, and carrier testing for cystic fibrosis.
In April 2003, the UK's Human Genetics Commission recommended that most genetic tests that offer health information should not be sold directly to the public. Its report, entitled 'Genes direct: ensuring the effective oversight of genetic tests supplied directly to the public' called for stricter controls on predictive genetic tests, but not an outright ban.