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Precision Medicine, “My Hope for the Future”

Emily Kramer-Golinkoff

Emily Kramer-Golinkoff (A. Kotok)

7 March 2017. A meeting on Capitol Hill in Washington, D.C. today heard about one person’s struggle with cystic fibrosis and her hope for precision medicine to provide a cure. Emily Kramer-Golinkoff, co-founder of the patient advocacy group Emily’s Entourage, described her experience with cystic fibrosis and the work of her organization at a briefing on a new report on precision medicine released today by the Personalized Medicine Coalition.

Kramer-Golinkoff’s story was meant to highlight the need for precision medicine to tackle inherited diseases like cystic fibrosis featured in the report. Precision medicine takes advantage of recent advances in technology making it faster and less expensive to genetically analyze and reveal particular biomarkers or molecular indicators responsible for disease, then finding treatments addressing those indicators. In cancer, for example,  genetic analysis of tumors can reveal mutations underlying the tumor that can be addressed with drugs sometimes used to treat cancer found in other parts of the body.

For Kramer-Golinkoff, however, precision medicine has yet to find a cure for her cystic fibrosis, a genetic disease of the glands that make mucus, a substance keeping the lungs and airways moist, as well as helping prevent infection. The disease results from mutated genes passed from each parent to their children. With cystic fibrosis, the mucus becomes thick and sticky, and builds up in the lungs and airways, where the accumulation of mucus makes it easier for bacteria to grow, leading to repeated lung infections. The build-up of mucus in the other organs like the pancreas can likewise block ducts interrupting the flow of enzymes for digestion.

Emily’s Entourage, the organization in Philadelphia started by Kramer-Golinkoff offers a patient registry and raises money for research in cystic fibrosis. The group awards grants for high-impact breakthroughs designed to accelerate progress in nonsense mutations, where a mutated sequence results in an incomplete and shorter than usual protein. The group also provided seed funding for Talee Bio, a start-up company commercializing research leading to gene therapies for cystic fibrosis.

Precision medicine contributed to development of two drugs so far to treat cystic fibrosis, Kalydeco in 2012 and Orkambi in 2015, both made by Vertex that address specific mutations in the cystic fibrosis gene. Unfortunately Kramer-Golinkoff has none of the mutations addressed by the drugs. Nonetheless, she told the meeting, “Personalized medicine is my hope for the future.”

The document, “Personalized Medicine Report: Opportunity, Challenges, and the Future,” released by Personalized Medicine Coalition at the meeting and provided to Science & Enterprise tells of a 62 percent increase since 2012 in the number of precision medicines on the market. The report lists 132 drugs and their corresponding biomarkers approved as of September 2016. Most of the drugs in the inventory are for cancer, cardiac conditions, psychiatric disorders, and infectious diseases. The report also indicates that a recent review finds some 65,000 different genetic tests are also on the market, making genetic data much more widely available than before.

In addition, the report highlights changes in regulations and reimbursement practices that could clear away obstacles to adoption of precision medicine. In the discussion of the report, Michael Sherman, chief medical officer of Harvard Pilgrim Health Care, a not-for-profit health plan serving New England, noted regulations should provide incentives for rewarding value, which would support more use of diagnostics combined with treatments that make up precision medicine.

Instead, says Sherman, you often find unintended consequences of regulations like Medicaid’s “best price” rules that require Medicaid to pay the lowest price charged for comparable goods or services. When companion diagnostics are included in the price of a drug, the cost of those tests to Medicaid is $0.00, providing no incentive for increased diagnostics required in precision medicine. Jay Wohlgemuth, chief medical officer of Quest Diagnostics and another panel member, confirmed that reimbursement practices focusing on individual services particularly discourage diagnostics, and he urged more reimbursement practices for overall treatment strategies.

Sen. Edward Markey

Sen. Edward Markey (A. Kotok)

Keynote speaker, Senator Edward Markey, Democrat from Massachusetts, pointed out more serious headwinds threatening precision medicine and U.S. health care in general. Markey said the Trump Administration’s proposed $54 billion increase in defense spending, coupled with $20 billion for a border wall with Mexico, will require compensating cuts in non-defense discretionary programs, such as medical research.

In addition, the threatened repeal of the Affordable Care Act, often called ObamaCare, will degrade the quality of U.S. health care. Markey noted the experience of Massachusetts that began a similar statewide program before passage of the Affordable Care Act, which now gives the state the highest rate of insurance coverage and most favorable health outcomes in the country, while still enjoying only a 3 percent unemployment rate.

He also underscored that Massachusetts may be known as the Bay State, but it is also the “brain state” which benefits from health research spending. Massachusetts, said Markey, has 2 percent of the U.S. population, but manages to attract 11 percent of NIH’s research grants.

Update, 7 March 2017: The report is now online.

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