I recently listened to a podcast by Mari Baker, previously CEO of Navigenics, in which she touched on personalized, predictive, and preventive medicine (see: Building an Organization, Building a Team). These are likely topics of interest for a former executive in the genomics testing business. She made two interesting points. The first was that Navigenics, in its early days, was in competition with 23andme which had developed a business model oriented toward consumer genomics, which is to say, personal DNA analysis. The executives of Navigenics did not initially believe that physicians would be as receptive to DNA testing as they turned out to me. In response to an increasing level of physician interest in genomics, the company shifted its focus more toward a more standard model of care, as opposed to a consumer customer base. and began marketing to physicians. The second point she made in relationship to predictive and preventive medicine was that patients whose genetic testing suggested a predisposition to a disease such as cancer would be ideal candidates for subsequent follow-up screening.
I have posted a number of notes lately about predictive/preventive medicine and particularly the role of the clinical labs in these disciplines (see: The Relationship Between Predictive and Preventive Medicine, Preventive and Predictive Medicine as Components of the Healthcare Continuum). In another recent note (see: Chlamydia Infection Common but Controversy Arises About Screening Programs), I presented the difference between screening and screening programs:
Any benefits of screening in a population will only be achieved if screening is implemented as a program. This means regular repeated screening of all those in the target population. Opportunistic screening as usually practiced does not ensure that people who have been screened once are invited for subsequent screening tests
Carry this idea about screening vs. screening programs from an infectious disease like chlamydia to cancer, assuming that early detection will be more effective and less costly than late detection. This is a central tenet of the early health model. Rather than screening the general population for a particular cancer(s), one should develop screening programs focusing on patients who are genetically predisposed to the cancer as, for example, those with a strong family history. Those who test positively will be the subsequent target for biomarker or IVDMIA screening for the development of the actual neoplasm as evidenced by the circulation of abnormal proteins or abnormal amounts of normal proteins. Of course, such reliable biomarkers/IVDMIAs may not exist at the present time for a wide variety of neoplasms but they surely will be developed in short-order. Of course and in the case of BRCA1 and BRCA2, the neoplasms may be so aggressive and fast-growing that some patients may elect for prophylactic resection of those organs predisposed to the development of the cancer.