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Under-Use Of Genetic Testing Is Putting Health Of Families At Risk

Content sponsored by Sigma-Aldrich® Advanced Genomics

As NGS techniques advance you would naturally expect their benefits to be taken up by more members of society. Tests for genetic mutations that can lead to an increased risk of cancer are now beginning to fall to more affordable prices, and offer the chance for people with a history of specific cancers in their family to find out if they carry these mutated genes. Despite this, research in France has shown a slow uptake in the number of people opting for these tests.

Low numbers of people getting tested

Professor Pascal Pujol, Head of the Cancer Genetics Department, Montpellier University Hospital in France, told delegates at the 2013 European Society of Human Genetics Meeting, that although tests for BRCA1 and BRCA2 mutations have increased over the last decade, some such as the MMR mutation linked to certain colon cancers, remain woefully underused.

In total only a third of relatives that had either of these mutations also went on to have genetic testing themselves.

The benefits to finding out if you carry a mutated gene

Those who find out if they carry a gene linked to certain cancers have a much stronger chance of overcoming the disease. Both regular screening and a heightened awareness of the potential signs of disease can lead to an earlier diagnosis.

Reducing cancer development by 90%

People can also take direct action to reduce their risk, such as women who carry the BRCA1 and BRCA2 mutations. These genes can significantly increase the chance of developing breast cancer. However, those who undergo testing can choose to have breast tissue removed which reduces the chances of cancer developing by around 90%.

Studies of genetic testing in France

Data collected by the French National Cancer Institute from 2003 to 2011 showed a very slow increase in the amount of people getting tested for these mutations, with a tiny increase of only 1144 to 1635 a year for MMR mutations.

Although financial limitations can be a barrier for some, the slow uptake of genetic testing has been described by Professor Pujol as “frankly disappointing”.

“While we have only studied the situation in France, we believe that our findings would be likely to be replicated in many other countries across the world. It is extremely worrying that such a simple test, which has the potential to spare whole families from devastating illness, is being so under-used. We urgently need a major programme of awareness among all those concerned, involving medical education and training, information programmes for patients and their families, public health campaigning, and improved genetic counselling,”

Increased awareness can benefit society

With high profile celebrities like Angelina Jolie recently coming out in support of increased awareness and use of gene testing for those with family histories of cancer, more needs to be done to bring the benefits to a wider portion of our society.

These issues can raise a number of ethical and personal dilemmas for those are likely to develop certain cancers. Parents can feel a sense of shame at the possibility of passing on these genes to their children. This, combined with other fears, may contribute to the low up-take of gene testing.

The work of both the media and scientists to bring more attention to available tests and procedures is important for everyone working towards cancer treatments- and society as a whole.

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