By Charis Eng, MD, PhD

The public perception of “personalized medicine” is askew: the term is often viewed as a common treatment option for rare genetic disorders. The truth is that the power of genetic and genomic information allows physicians to offer personalized health care to their patients.

Yet personalized health care is not new: ABO blood typing is a superb example of widespread genetics-based personalized healthcare dating back to World War II, and continues to have universal applicability and will for centuries to come.

Consider a more recent example: common associations for breast cancer accounts for almost three percent of all breast cancers whereas a “rare mutation” (BRCA1-2) alone accounts for 10 percent of all breast cancers. There are currently at least nine other breast cancer predisposing genes which help knowledgeable healthcare providers make the correct diagnosis and inform patients of risks of other cancers.

In taking a very practical point of view, we all want to use genetic and genomic information to benefit the patient. Despite all good intent, how successful have we been?

Douglas Levy, Ph.D. surveyed 35,000 healthy individuals by taking cancer family histories. By family history alone, 350 appeared to be at risk for hereditary breast and ovarian cancer syndrome, yet only 35 discussed their concern about family history with their healthcare providers, and only four of these people reached appropriate testing. Even more alarming, it is unknown how many received appropriate pre- and post-test genetic counseling (considered the standard of care).

Only one percent of those who require such genetics-informed personalized clinical management are even identified and referred to genetics professionals.

As Michael Porter, author of “Redefining Health Care”, has said, American healthcare in the 21st century is practiced on a 19th-century organizational structure that has received a thousand Band-Aids to even limp along.  Healthcare providers are swamped by a thousand regulations which bring along piles of paperwork.

Family health histories are the sum total of an individual’s genetic legacy and his/her environmental exposures.  Trained genetics professionals can look at an individual’s personal and family histories and narrow down which particular gene(s) may predisposition them for specific disease(s).

The testing of the most likely gene, in the setting of genetic counseling, will result in highly accurate gene-enabled diagnosis, and the particular gene involved will dictate what else the individual is at risk for and so increased screening or tailored, preemptive strikes can be planned.  Importantly, knowing where the gene alteration is, other family members can be screened only for that particular alteration resulting in a 100 percent accurate gene-enabled diagnosis in the setting of genetic counseling.

If we can take advantage of health information technologies, then we must somehow ensure that every single individual who sees his/her healthcare provider, whether primary care or specialist, has an accurate family health history that is risk assessed but without draining more time from our healthcare providers.

How many times have you filled in the family history questionnaire on paper only to have it filed away, never to be seen again?  And even if seen, does your healthcare provider know how to assess risk and refer you to a genetics professional?

The Centers for Disease Control and Prevention recently released its goals for Healthy People 2020.  For the first time, the goals included genetics-enabled healthcare: to identify as many individuals as possible who are at genetic risk for breast and colon cancers and get them to proper genetic care.  Both physicians and patients must be more proactive in educating themselves about genetic testing and its wealth of benefits.

Charis Eng, MD, PhD is the Chair and founding Director of the Genomic Medicine Institute of the Cleveland Clinic Foundation, founding Director and attending clinical cancer geneticist of the institute’s clinical component, the Center for Personalized Genetic Healthcare and Professor and Vice Chairman of the Department of Genetics at Case Western Reserve University School of Medicine.