Inherited risk: The benefit and burden of genetic testing for heritable diseases

Not too long ago, if you wanted to know whether you were at risk of breast cancer or Alzheimer’s disease, you looked at your family tree. Did a parent, an aunt or an uncle succumb to the disease? Do any of your siblings have the condition? But for an increasing number of life-threatening diseases, genetic tests that can help predict whether you’re at risk now exist.

The cost and time needed to sequence a single gene, or even an entire genome, has plummeted over the last two decades. And it’s not only doctors wanting to diagnose an illness who are taking advantage of the genomic riches now so readily available. Today, people can send their own blood or saliva samples to a growing number of direct-to-consumer genetic testing companies. The future of this trend is uncertain, though, as it has attracted the scrutiny of both the research community and government regulators.

But when it comes to genetic testing, knowledge isn’t always power. Divining your medical future based on the code in your chromosomes can have far-reaching consequences for yourself and for those around you.

On the latest episode of Up Close, I discuss how clinicians, patients and their families navigate the often uncertain waters of genetic testing with clinical and research geneticist Professor Ingrid Winship. Professor Winship is the Executive Director of Research at Melbourne Health and Professor of Adult Clinical Genetics at The University of Melbourne and the Royal Melbourne Hospital.