How advances in genetic sequencing give us the power to take control of our health

Shai Senderovich of Branding Science explores the importance of taking responsibility for our own health and highlights how genetic sequencing testing allows us to take this one step further.

Taking control

In 1967 two researchers from UCL started a study that aimed to understand the link between socioeconomic standing and mortality from coronary heart disease (CHD). In a project called the Whitehall Study, Fuller and Marmot observed 18,000 subjects from the civil service over ten years.

Fuller and Marmot could not prove their hypothesis for a link between class and health, but they did find important links between being overweight, smoking, pressure at work and the chances of developing CHD. I would like to further investigate their findings around the importance of taking responsibility for our health, and discuss how the power of genetic sequencing technology allows us to take this one step further.

To some extent, most of us are aware of familiar hereditary conditions and we do try to take care. I know some of my family's hereditary conditions and I try to watch my weight and exercise (not as successfully as I would like to). But, with ever increasing advances in genetic sequencing technology, we are entering a new era with an emphasis on preventative medicine: predictive and proactive diagnoses afford the potential for diseases to be treated earlier than ever before.

Genetic testing

Quest Laboratories, the biggest US operator of medical labs, are introducing their BRCA1 and BRCA2 genetic test products in the US market currently dominated by Myriad's genetic tests which until recently, held a US monopoly by patent protection on the BRCA sequence tests. However, the patent on DNA sequence has been revoked lately by the U.S Supreme Court: the market for genetic testing is now open for all.

The genetic link to breast cancer has received the most attention by far, not least due to the media frenzy surrounding Angelina Jolie's recent decision to undergo a double mastectomy after finding she was carrying mutated BRCA1 gene. Since August 2013, the publicity around Angelina has both accelerated requests for genetic screening for BRCA mutations and resulted in a rise in number of mastectomy requests. Many HCPs believe that this approach is misguided and other non-invasive control or treatments should be employed, such as periodic testing and novel targeted therapies that will keep the disease at bay: regular monitoring is better than invasive surgery. Still, everyone agrees that early detection of genetic risk factors provides an early warning. Genetic testing for cancer-related mutations is going to become easier as a study from The Cancer Genome Atlas (TCGA) suggests there are only 174 mutations that can predict lethal cancers. That is not that much to screen for.

Recent developments in molecular genetics mean that what scientists previously took years to do, can be done in hours today. The human genome project that, 13 years ago, took five years to complete and had a budget of five billion US dollars, can now be performed in a few days using state of the art Roche 454 and Illumina platforms, or in a couple of hours using the even more cutting edge Ion-torrent platform. This means that today, whole genome sequencing (WGS, or next generation sequencing, NGS) is available to anyone for around one thousand US dollars. WGS is now taking place throughout the US and will soon be available within the NHS. WGS will take genetic screening to a completely new level, and it has been suggested that the long term goal is to have everyone's sequence on their medical file.

Taking it to the public

Recently, (07th October 2013) Prime Minister David Cameron announced the 100K Genome Project, a five year government funded initiative between the Welcome Trust, Cancer Research UK and a private firm called Genomics UK. The genomes of 100,000 volunteers will be fully sequenced, with the information utilised to identify health risk markers, with the ultimate goals of 1) uncovering tools to identify individuals who may be disposed to a particular disease and 2) informing the development of therapies to counter these diseases. This is a further step towards implementing WGS in the NHS.

However this is not the first project of this kind...

An organisation here in the UK called UK-biobank (ukbiobank.ac.uk) has already been successful in obtaining population information by following its volunteers for a long period (aiming for 50 years) analysing many factors including location, diet, exercise, occupation and stress. Volunteers report back on changes to their daily lives and health status, and a large population database is being created which is openly available to the scientific community. Whole genome sequencing is then performed on 'interesting populations' to address specific questions such as, 'what are the genetic similarities between people with specific diseases?'

Benefiting our health

Now, let's put it in perspective.

The technology is here to stay and the benefits outweigh the risks (arguably). By understanding what it means and taking charge of our health we could live longer.

However, we should only look for information that we can act upon. There is no point in looking for mutations leading to Alzheimer's' disease because there is nothing we can do about it (yet), but there are benefits in screening for any disease that is treatable or preventable. It is also important to understand that DNA is only the blueprint to our lives. Our environment contributes the other half.

DNA+Environment=You

The next article from Branding Science will be published in March.

About the author:

Shai Senderovich is a Research Executive in Branding Science. Shai has worked for five years in the pharmaceutical industry in various roles before moving into market research. Shai is interested in technology, healthcare and market research.

Shai has a PhD in medical oncology from QMUL and an MSc from the Weizmann institute in Israel.

Closing thought: How do advances in genetic sequencing give us the power to take control of our health?