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Precision Medicine: Hits and Misses

Precision medicine is so broad, you need to focus your investment. This post describes the 3 main activities—screening, diagnostics and therapeutics—associated with precision medicine and outlines which service lines are being impacted.

The 3 Areas of Precision Medicine
Precision medicine encompasses an expansive set of activities, which cluster into 3 areas:

  1. Screening: Predictive genetic testing that occurs before symptoms develop. A prospective analysis then aims to tell patients whether or not they will experience some disease in the future to delay or avert “wellness to disease” transitions. This could be done on everyone or a targeted population.
  2. Diagnostic: After symptoms present, this testing and analysis rules in or out a specific molecular cause of a disease. Integrates retrospective findings from clinical and lab tests.
  3. Therapeutic: Postdiagnostic analysis that pinpoints prognostic factors to determine a series of clinical actions. These could redirect a care pathway, alter drug choice or suggest a “custom-fit” medicine tailored to the person.

Uptake between areas is uneven. Each requires a different workforce and testing approach. Further, as noted in Gartner’s Hype Cycle Curve (Figure 1 below), each will undergo different rates of adoption. You will have to consider which areas to offer and what service lines to target in order to differentiate your program.

Screening: Know Thy Patient
Screening patients with predictive genetic tests aims to halt the progression of diseases that could be prevented with treatment or lifestyle modifications. Meanwhile a predication of good health might reduce worry and avoid unnecessary procedures. Who should be screened?

Everyone—Not Recommended
The current clinical consensus is not to conduct whole genome sequencing on healthy individuals. Payers are not on board; they consider this to be experimental. Further, studies have shown that preventative genetic testing results fail to change patient behavior—they still eat, drink, smoke or sit too much.

Scientific Wellness: Sequencing healthy people to promote fitness. An emerging but controversial field that integrates genomics, microbiomics and metabolite screening results to help identify subacute nutritional deficiencies, and guide diets and tailored workout regimens. Arivale is the most reputable of several direct-to-consumer companies offering this service; for ~$3,999 per patient per year it conducts testing and connects patients with nurses, dietitians, nutritionists and coaches who facilitate personalized regimens meant to optimize health.

Targeted—Potentially Beneficial
Screening specifically indicated patients for a given disease reduces the chance of unnecessary medical intervention due to false-positive findings and overdiagnosis.

Cardiovascular Disease “Cascade Screening”: Early diagnosis and treatment of familial hypercholesterolemia (FH) can decrease CV disease by ~80%. High cholesterol in kids strongly indicates testing 3 genes that underlie 60%–80% of FH cases. Positive results “cascade” a testing indication to their parents and siblings. The CDC Office of Public Health Genomics classifies cascade screening for FH as 1 of 47 high-evidence or “Tier 1” genomic applications that are reimbursed by CMS.

Diagnostic: From One Disease, Many
Diagnostic testing is a clear and obvious win for precision medicine. Available now for many service lines, this service should be offered at every hospital—either in-house or outsourced.

One trend of particular note is “disease fragmentation.” Pick any disease. Chances are that its underlying cause is one of potentially hundreds of factors—many of which are genetic. Although the causes are all different, similar but not identical symptoms result.

Although they fly under most programs’ radar, some of these disease subtypes are clearly diagnosable now. A more precise diagnosis could reduce clinical variation, alter care pathways and improve outcomes. Below are examples of common diseases with the percentage (%) indicating those directly caused by alterations in just 1 gene:

  • COPD: 1%–3% (~160–480K US patients) are mostly early-onset cases caused by alpha-1 antitrypsin deficiency (AATD).
  • Diabetes: 1%–3% (~300–900K US patients) arise from monogenic causes, including maturity onset diabetes of the young (MODY).
  • Obesity: 7%–10% (~600–800K US patients) of early-onset causes of obesity are caused by over 20 single gene disorders (including FTO, LEPR, POMC, LEP or MC4R genes).

Therapeutic: Treat the Cause, Not the Symptoms
So-called precision medicines or “targeted therapies” don’t attack a disease per se, but the patient’s underlying molecular lesion. Pharma has pumped these into its drug development pipeline for years and now their flow has resulted in a recent deluge of clinical trials. Already, most medicines newly approved by the FDA are precision medicines. Only 5 targeted therapies were available in 2008, while 132 were available in 2016.

Three notable examples approved by the FDA in the last few months include:

  • Kymriah (tisagenlecleucel) after decades of hype, the FDA finally approved the first gene therapy for use in the US! This “living drug” reprograms a patient’s own immune cells to sniff out and attack a specific type of blood cancer.
  • Keytruda (pembrolizumab) was the first cancer treatment FDA approved for any solid tumor with a specific DNA sequence. 73% of all cancer drugs currently in development are targeted therapies.
  • Kalydeco (ivacaftor) for any 1 of 33 specific mutations that underlie cystic fibrosis (CF) was just approved in May 2017. This is one of several newly available precision therapies for CF.

According to the Tufts Center for the Study of Drug Development, the number of precision medicines in development will increase 69% in the next 5 years. A few years ago Sg2 experts successfully predicted Keytruda-like precision medicines would be forthcoming for cancer. Now Sg2 experts expect almost ALL new medicines will eventually be specifically targeted to a patient, tumor or pathogen genome.

Next Steps to Bolster Your Service Line–Specific Precision Medicine Approach
Your precision medicine program will have to determine which area(s) to focus upon. While precision medicine will eventually influence every facet of medical care, some disease areas are impacted now while others will be impacted sooner or later.

You can’t offer everything, so before you target your clinical leadership and workforce needs, chart which course is right for your system’s precision medicine strategy:

  • Be wary of screening everyone for genetic risk, as this remains experimental and largely a direct-to-consumer offering. It may remain nonreimbursable from commercial payers. Rather, adopt offerings designed for screening targeted patient populations with clinically appropriate genetic testing efforts to benefit those most at risk.
  • Incorporating the latest developments in genetic diagnostics will be table stakes to play ball in service lines such as cancer, but also to subsegment diseases into discrete genetic types. This offers the most straightforward initial foray into precision medicine.
  • The concept is still in early development, but offering therapeutic actions directed to the person, not the disease will be a major long-term win. This area carries more short-term risk but will yield significant rewards to providers willing to invest in cutting-edge gene therapy programs, prescribe the latest precision medicines and partner with clinical researchers to offer experimental therapies.

Finally, check back on the Sg2 Intelligence site over the next few months for additional posts in our precision medicine series.

Sources: Pear R and Kaplan S. Senate passes FDA funding and ‘right to try’ drug bills. New York Times. August 3, 2017; Springer S. With DNA test, Boston startup aims to give athletes a better understanding of their bodies. WBUR News. August 14, 2017; US Department of Labor: Bureau of Labor Statistics. Occupational Outlook Handbook: Genetic Counselors. Accessed August 15, 2017; NHS, Department of Health. Annual Report of the Chief Medical Officer 2016: Generation Genome. July 20, 2017; Keshavan M. On the rise: Precision medicines and genetic tests growing steadily. STAT+. March 6, 2017; Doust J et al. JAMA Intern Med. 2017;177(7):1020–1025; Knowles JW et al. JAMA. 2017;318(4):381–382; HealthLeaders Media Roundtable. The Impact of Precision Medicine on Healthcare Business Growth Strategies. July 2017; Rogers K. Genetic counseling field to rapidly expand. CNBC. August 2, 2017; Sturm A. Keys to your genetic heart health. Geisinger Caring Webpage. March 7, 2017; Humphrey M. Moon revolutionizes rare disease diagnostics. Front Line Genetics. August 22, 2017; FDA. FDA approves first cancer treatment for any solid tumor with a specific genetic feature [news release]. May 23, 2017; Cross R. ‘Scientific wellness’ study—and a famed biologist’s spinoff company—divide researchers. Science. July 19, 2017; FDA. FDA expands approved use of Kalydeco to treat additional mutations of cystic fibrosis [news release]. May 17, 2017; FDA. FDA announces new steps to empower consumers and advance digital healthcare [news release]. July 27, 2017; Hippocrates, Translated by Francis Adams. Of the Epidemics. 400 BCE; Berg AT et al. Early-life epilepsies and the emerging role of genetic testing. JAMA Pediatr. July 31, 2017 [epub ahead of print]; Tan TY et al. Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions. JAMA Pediatr. July 31, 2017 [epub ahead of print]; Lemke J. High-throughput sequencing as first-tier diagnostics in congenital and early-onset disorders. JAMA Pediatr. July 31, 2017; Sg2 Analysis, 2017.

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