WHAT IS PERSONALISED MEDICINE?
The practice of medicine has always been personal. Doctors use extensive personal information about a patient—including medical history, physical exam, vital signs, family history, laboratory measures, and imaging tests—to determine a patient’s risk for certain diseases and to make diagnoses. So what makes medicine more personalised now? The answer is that we have entered an era unlike any before. You may have heard about “big data” and its transformational effect on business operations across multiple industries. Medicine also is entering the era of big data.
It is now possible to have your entire DNA sequence (your genome) decoded, measure tens of thousands of biomolecules in your body, use sensors to continuously follow physiology and activity, and characterize the microbial community that lives in your gut and other parts of your body. These comprehensive measurements have the potential to provide information about your health in exquisite detail, but, as with any big data set, they need to be integrated and interpreted. The hope is that ultimately this information will routinely be used to guide you to manage your health better, not just according to overall outcomes, but based on the experiences of other individuals. In addition to helping decide details about the medical care you get throughout your life, this information has the potential to guide you in many other aspects of your life: the foods you eat, your lifestyle choices, and maybe even the jobs that you choose.
There are many challenges to achieving this goal. Some genomic information we know how to interpret and some we do not; and some of what we think we know will be proven incorrect in the future. In addition, some people worry that despite numerous legal protections against genetic discrimination, genomic information may be used by insurance companies, employers, or others to discriminate against individuals who carry certain genetic markers. Furthermore, there are privacy concerns because it is nearly impossible to ensure that our genetic information will be kept 100% confidential. Some worry that genetic information might be used inappropriately in the social realm; for example, to influence what spouses we choose and whom we encourage our children to marry. Lastly, and perhaps most importantly, there is the challenge of how to pay for genomic sequencing and interpretation. In the United States in particular, healthcare systems primarily provide services to people after they have developed a disease or condition; prevention traditionally has been a lesser focus. Changing this paradigm will require a change in culture.