Screening Saves Lives!

Your genome, like your fingerprint, is unique to you and you alone. While the idea of medicine being personalized to your genetic code is certainly up and coming, in many ways we have a long way to go before genetics can be fully incorporated into public health and healthcare at-large. However, this is not the case for genomic medicine across the board. In fact, we have the technology and the know-how to save millions of lives right now, today, using genetic testing.

Cascade genetic screening is the process of actively finding and screening family members of individuals with certain genetic conditions for which life-saving interventions exist. There are currently two million people in the world with one of three life threatening genetic diseases, and we have a screening method that can help save these lives!

The first of these three diseases, hereditary breast and ovarian cancer, occurs when you inherit specific mutations in certain genes that overwhelmingly increase your risk for developing breast and ovarian cancer.  The second, Lynch syndrome, (or hereditary nonpolyposis colorectal cancer) is an inherited disorder that increases your risk for developing approximately ten cancers, especially cancers of the large intestine.  The third disorder, familial hypercholesterolemia, stops your body from getting rid of bad cholesterol, which in turn causes high cholesterol, heart disease, and heart attacks in otherwise healthy individuals.  Each of these diseases can be life threatening and can affect thousands of people in the US every year.

Family health history plays an important role in cascade screening, as it often takes detailed knowledge of family health to diagnose any one of these conditions.  If for example many women in a particular family have had breast and/or ovarian cancer at an early age, a doctor or genetic counselor might recommend genetic testing to see if these individuals have hereditary breast and ovarian cancer.  Similarly, if high cholesterol and a history of heart attack or stroke run in your family, having a genetic test for familial hypercholesterolemia would help you and your family understand why so many relatives struggle with heart disease and enable those carrying the gene causing the increased risk of developing the problem to take important steps to start a cycle of prevention and allow for early screening and detection.

In cascade screening, relatives of individuals with any one of these conditions are also genetically screened for the disease in the hopes of diagnosing more people early on, possibly before they have symptoms and when treatments and prevention techniques are most effective. Cascade screening has the potential to be a useful tool in public health, because the at-risk target population is the immediate family of previously diagnosed individuals.

Cascade screening could not only save many lives that could be affected by cancer or heart disease, but using genetic testing as a means to prevent these diseases or control the symptoms will also save money that might otherwise be spent on costly treatments further down the line. By connecting those dots of family health history, we can use genetics as a public health tool to find disease and treat it before it happens.

Watch the video below for more information!