Want to know whether you are genetically predisposed to cancer, heart attacks or other major ailments? Just click a mouse. Log on to one of the sites (www.direct.com, www.lab-safe.com, to name but two) that offer genetic testing and hundreds of other diagnostic assays, punch in your credit card details, and voila! No physician, no health insurance plan. Get to know what your genes predict for you.

In other words, order your genetic horoscope online.

Direct-to-home marketing of genetic testing and diagnostics has arrived.

The New England Journal of Medicine (NEJM), the Bible of the latest medical research, opened a Pandora’s box last week when in an article ‘Genes on the web’ it announced the arrival of direct-to-consumer genetic testing and the ethical dilemma it poses. It pointed out that you can now order high-end tests like those for the BRCA1 or BRCA2 gene mutation responsible for breast cancer, or any of the hundreds of other diagnostic assays, all without involving doctors or health insurers.

The opening up of genetic information for all and sundry has triggered off widespread comment questioning the ethics of the development. Geneticists and doctors are divided on the issue. Gene diagnostic companies and clinical geneticists argue that these tests bring sophisticated diagnostic services to consumers who are interested in genetic testing, able to afford it but lack access to clinical testing sites. The tests also promise anonymity to consumers who fear discrimination by employers or by insurance companies because they are genetically predisposed to a disease.

“This means that these companies, obviously driven by commercial interests, will exploit consumers’ anxiety to sell them tests they don’t need, without offering the counselling so very necessary to understand the results,” warns Dr Adam J Wolfberg, a fellow in the maternal foetal medicine department at Tufts-New England Medical Center, Boston. Dr Wolfberg was among the first medical professionals to write about the development in an international journal and throw open the ethical questions to the public.

The anonymity of on-line testing can present complex challenges to physicians and patients.

Step by step

One of the first such companies, the US-based DNA Direct (www.dnadirect.com) asks consumers interested in BRCA testing to fill online questionnaires seeking personal and family medical history and ethnic background information. The site then recommends a specific test. After paying with a credit card (DNA Direct does not accept health insurance) and preliminary tele-counselling, customers are sent a test kit. The kit has to be sent to a phlebotomist (a person who draws the blood), who takes their blood and sends it to Myriad Genetics, the only US company currently performing commercial BRCA testing. The results are sent to DNA Direct, which in turn makes them available to the customer through a secure log-in on its web site.

LabSafe offers written test results but employs no genetic counsellors and charges $75 for a 15-minute telephone consultation with a staff physician to review the results. DNA Direct advises full-sequence BRCA testing as the most appropriate, at a cost of $3,456. Ashkenazi Jews or members of the public who have a family member with a BRCA mutation are advised to have more focused screening, which costs $620 to $695.

Questions are being raised about the quality of the so-called genetic counselling. Some doctors express scepticism about whether counsellors are appropriately trained and whether counselling over the telephone is as effective as a face-to-face discussion. In fact, the issue is being keenly researched at the National Cancer Institute in the U.K. “Genetic counselling is supposed to be agnostic on whether people should get tested. I worry about a business model that is dependent on people being tested to make money,” says Marc Schwartz, co-director of the Cancer Control Programme at the Lombardi Comprehensive Cancer Center at Georgetown University in the US.

The biggest concern by far is that people getting tested really don’t understand what they are in for, and their physicians may not understand elements of the tests either, thereby making big, ill-informed decisions.

Also, the anonymity of on-line testing can present complex challenges to physicians and patients. Physicians who recommend that their patients be tested anonymously for genetic predisposition to a disease may be responsible for providing follow-up care based on the results, whether or not they document their recommendation or receive the test results, says advanced laparoscopic surgeon and medical columnist Dr B Ramana. “The doctor, patient and health system (including the insurance companies) have conflicts of interest and ethical conundrums. If a patient tests positive for a test and goes to her doctor and requests that the records be kept secret, what should the doctor do? If the doctor treats her on the basis of secret records and creates complications, will his insurance company support him? Will the insurance companies, which then come into the know, not file a complaint against him for withholding information from them, an act amounting to fraud?” he asks.

Doctors also contend that the main ethical issues of revealing a positive report should be borne by the patient, who acts in his or her own interest by refusing to share the results fearing that they’ll lose out on health and life insurance. It is considered unethical for a patient to refuse to disclose a congenital disease. The ethical burden is transferred to the physician who now has to bear the cross of being an accomplice in an act of fraud. It is incumbent on the physician to refuse to do so. It's another matter that many or most will fail to do so.

Issues involved

For India, there is an added controversy: foetal sex determination. “How is the government going to prevent a sample of blood being sent to the US for a secret report about the foetal sex sent via email?” asks Ramana.

Good question. Several internet-based companies market tests to determine if two individuals are related genetically and to test whether they are susceptible to a particular genetic disease. This is particularly important if one of the identical twins is suffering from a blood disorder. Genetic testing determines whether the twin is identical and therefore more prone to the same disease.

Some companies also market non-invasive tests for foetal sex, based on an analysis of foetal DNA in the mother, although one of these companies, Acu-Gen Biolab of Massachusetts, is facing litigation as a result of testing inaccuracies.

Despite the rumpus, some physicians whole-heartedly support the marketing of gene testing equipment online. Says clinical geneticist Dr Debasish Basu, who has been researching diagnostic markers for cancer treatment, “Unless there are legal or religious issues involved, I see no reason why consumer-oriented genetic testing should be looked at with suspicion. Unless you are killing unborn babies on the basis of genetic tests, why shouldn’t we encourage this trend? In fact, this could simply revolutionise neo-natal and cancer care protocols.” How? If a child is found to be pre-disposed to genetic diseases like cystic fibrosis, sickle cell anaemia or other bleeding disorders like haemophilia, preventive and screening measures can be implemented at an early stage. Similarly, for those at a high risk of getting cancers, rigorous screening could help detect malignancy at an early stage. In fact, in certain cancers like lobular cancer of the breast, BRCA1 positive women can be offered prophylactic removal of the breast.

The big question, however is: can Indians go online and get their genes tested? No law bars them from doing so. India does not have a law to stop genetic testing on the internet. In sum, it’s a free-for-all out there.