The Future of Genomics
So what’s new? What’s on the horizon for genomics, what can we expect to see within Primary Care in the future?
So far this week we’ve talked about familial cancer. We are about to move on to talking about other applications of genomics in Primary Care. For now, let’s think about new technologies relevant to cancer and other areas of genetics.
There is considerable interest in the potential of Polygenic risk scores (PRS), and we are likely to see them in use within our career lifetimes. In primary care we’re very familiar with risk scores which integrate physical measurements, co-morbidities and family history to give a personalised risk of developing multi-factorial disease, QRISK2 and Cardiovascular disease is the most advanced example. Polygenic risk scores also incorporate variants from multiple genes which individually have a small effect, but together may make a larger contribution to risk.
In the future polygenic risk scores may be used to risk stratify our patient population with screening measures tailored to each level of risk. Questions remain about their additional value over and above current risk scores, implementation and ethical issues. ‘Our Future Health’ project is a UK-wide initiative aiming to identify relevant variants and assess the use of PRS in routine clinical practice.
The following blog gives a taste of the use of PRS in breast cancer risk, and we will discuss PRS further in the context of Familial Hypercholesterolaemia and Cardiovascular risk. Polygenic risk scores: how useful are they?
Could DNA testing radically change our approach to cancer detection and survivorship? Dying tumour cells release DNA into the circulation, resulting in the presence of circulating tumour DNA (ctDNA) in the blood. There has been huge interest in using ctDNA detectable in blood samples, as a less invasive so-called ‘liquid biopsy’. The potential of ctDNA has been recognised both for diagnosis and monitoring of specific cancers. In the case of breast cancer ctDNA has shown considerable promise in detecting relapse many months before recurrent cancer is detected on imaging. The following articles from Cambridge University’s PHG Foundation explain ctDNA, its potential, and also the considerable challenges which remain before it can be used in routine clinical practice.
What role does genomics play in cancer management in your practice currently? How do you see this changing in the future?
