Researchers call for better regulation of genetic tests

Better regulation is urgently needed for genetic tests, particularly those marketed directly to the public, argue researchers in this week’s BMJ.

In the past 18 months, studies have identified dozens of inherited DNA variations associated with common conditions such as heart attacks, diabetes and asthma, write Professor David Melzer and colleagues.

In many cases, these findings provide insight on the cause of the disease, but clinical applications are still mostly unclear. Much work is now needed to identify and evaluate each potential clinical application. Yet, although the work of translating discovery into evidence based practice is just beginning, several companies have already marketed tests, many directly to the public.

Using tests without proper evaluation, they warn, could trigger erroneous treatment and involve major hazards. For example, direct marketing of the BRCA1 and 2 familial breast cancer tests to women at low risk was criticised for causing unfounded anxiety and unnecessary preventive surgery.

False reassurance from tests for common diseases could also result in effective prevention measures, such as controlling weight and exercising, being ignored. Problems with insurance or implications for other family members may also arise, they add.

So what needs to change to ensure that tests are used appropriately?

The authors call for harmonisation of regulatory standards internationally and for more transparency regarding the clinical evidence base for new tests.

For example, a scientifically independent system for identifying and checking higher risk genetic tests is needed in Europe. Currently, genetic tests in Europe are marketed without pre-market scrutiny by regulators, and companies can keep secret the clinical evidence on their tests. Similarly, few genetic tests developed ‘in-house’ by laboratories in the USA are currently reviewed by regulators.

Both consumers and professionals should push for a regulatory system that encourages clinical evaluation and makes the results (or lack of them) easily available to all, write the authors. Professional bodies and health care providers should also remind professionals that using tests in routine practice without evidence of utility is incompatible with good clinical practice.

These improvements in the clinical evaluation of tests may prove as important as the discoveries themselves in realising the promise of genomics to improve health, they conclude.

An accompanying editorial supports these views, saying that international collaboration to set standards and methods is urgently needed.

Source: British Medical Journal

Related stories:

Gene therapy improves vision in patients with congenital retinal disease
In a clinical trial at The Children’s Hospital of Philadelphia, researchers from The University of Pennsylvania have used gene therapy to safely restore vision in three young adults with a rare form of congenital blindness. Although the patients have not achieved normal eyesight, the preliminary results set the stage for further studies of an innovative treatment for this and possibly other retinal diseases.
Report describes first targeted therapy to produce remission of metastatic melanoma
In a demonstration that even some of the most hard-to-treat tumors may one day succumb to therapies aimed at molecular "weak points," researchers at Dana-Farber Cancer Institute report the first instance in which metastatic melanoma has been driven into remission by a targeted therapy.
Growth hormone is used to treat twice as many short boys than girls in the US and Asia
Boys are twice as likely as girls in the U.S. and Asia (mostly Japan) to receive recombinant human growth hormone (rhGH) for growth hormone deficiency, illnesses that affect height, and short stature of a non-medical nature. A smaller gender difference exists in Europe, Australia and New Zealand, but in the rest of the world short boys and girls are treated at the same rate. This indicates a likely cultural bias for male height in some countries.
Study reveals basis of anticancer drug resistance in childhood leukemia
The first analysis of the genetic determinants of resistance to the anti-cancer drug methotrexate in childhood acute lymphoblastic leukemia (ALL) could offer a pathway to predicting such resistance and treatments to overcome it, according to a St. Jude Children’s Research Hospital study.
Leading HIV researchers to collaborate on vaccine development
Two global research organizations dedicated to designing a vaccine against HIV – the International AIDS Vaccine Initiative (IAVI), and the Center for HIV/AIDS Vaccine Immunology (CHAVI) – have signed an agreement to work together to address major biological questions that have slowed development of a safe, effective and affordable AIDS vaccine.
Marketing of unproven genetic tests a threat to public health
No mechanism currently exists to ensure that genetic tests are supported by adequate evidence before they go to market, or that marketing claims are truthful and not misleading, according to a policy analysis to be published April 4 in Science. Misleading claims about genetic tests may lead health-care providers and patients to make inappropriate decisions about which tests to take and how to use genetic tests that have potential for profound medical consequences, the authors argue.
Compulsive gamblers always down on their luck
Gambling addicts don't learn from their mistakes, according to a study published today in the open access journal Clinical Practice and Epidemiology in Mental Health. The problem could be explained by a kind of mental rigidity that leads to harmful compulsive behaviour in sufferers.
Scans spot hidden tumors in rare cancer syndrome
Researchers at Dana-Farber Cancer Institute report that full-body PET/CT scanning detected unsuspected, treatable tumors in 3 of 15 patients with Li-Fraumeni syndrome (LFS), a rare genetic cancer syndrome for which no screening tests have been recommended.

News discussion:

Medicine & Health news