Applying an Implementation Science Approach to Genomic Medicine Workshop Summary (2016) / Chapter Skim
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5 Genomics and Implementation at the Level of Population Health
5 Genomics and Implementation at the Level of Population Health
Pages 43-54
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From page 43... ...
(LePage) • The methods and tools of implementation science can be used to help create a common framework for incorporating genomics into clinical practice by drawing from other disciplines such as management sci ences, organizational design, and engineering.
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From page 44... ...
. The programs described in this chapter, which are all at different points along the translational pipeline, include a statewide cancer genomics program, a coordinated effort to provide genomic diagnoses to people with monogenic diabetes, and a small pilot program that explored the genetic basis for rare childhood diseases.
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From page 45... ...
The Michigan Cancer Genomics and State Genetics Plan that emerged from this process had six discrete goals designed to improve traditional maternal and child public health genetic services as well as to create a more comprehensive agenda covering common chronic diseases with onset in adult life (see Box 5-2; Michigan Department of Community Health, 2004)
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From page 46... ...
Healthy People proposes 10-year national objectives designed to improve the health of Americans, and two of the objectives in the most recent Healthy People 20201 plan involve the use of genomics-based tools for improving the health of the overall population. The two genomicsspecific goals of Healthy People 2020 are: • To increase the proportion of women with a family history of breast and/or ovarian cancer who receive genetic counseling.
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From page 47... ...
State officials have been working to educate health plan leaders on the best practices for hereditary breast and ovarian cancer. A major partner in this effort is the Michigan Association of Health Plans, a group that disseminates information to its constituents about cancer genomics policies, among other issues, in the form of a quarterly newsletter.2 The MDHHS developed specific metrics to assess genetic counseling, testing, and management policies pertaining to BRCA1 and BRCA2.
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From page 48... ...
Currently, the database includes information on more than 17,000 patients and is useful for addressing open questions such as how insurance coverage affects testing. Much work has been done to reduce barriers for people who were not able to receive BRCA testing because of inadequate insurance coverage, Duquette added.
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From page 49... ...
Monogenic diabetes encompasses rare forms of the illness that are caused by a mutation in a single gene, and they can be overcome in certain cases with high doses of sulfonylureas, drugs used to stimulate the release of insulin from the pancreas. The two forms of monogenic diabetes -- neonatal diabetes mellitus and maturity-onset diabetes of the young (MODY)
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From page 50... ...
Covering the Test Panel A payer advisory panel working with the Personalized Diabetes Medicine Program indicated that payers are primarily interested in covering those genetic tests with demonstrated clinical utility, Pollin said. An interesting conundrum has taken place with payers over the number of genes on the monogenic diabetes panel, Pollin said.
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From page 51... ...
GENOMICS PILOT PROJECTS IN CANADA Génome Québec recently launched the Integrated Clinical Genomic Centre in Pediatrics in collaboration with Centre Hospitalier Universitaire Sainte-Justine, said Marc LePage, president and chief operating officer of Génome Québec. The pediatric genomics center is the first of its kind in Canada and is attempting to overcome diagnostic challenges in children with rare genetic diseases.
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From page 52... ...
AN INTERDISCIPLINARY FRAMEWORK FOR TEST IMPLEMENTATION The principles of implementation science can be used to help build a common framework for incorporating genomics into clinical practice by drawing from other disciplines such as the management sciences, organizational design, and engineering, said Brian Mittman of Kaiser Permanente Research. In some cases, patient care will be customized and unique; in other cases, it will be routine.
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From page 53... ...
This process could encompass patient education, ethical issues associated with consents and the return of results, and follow-up genetic counseling. Such supports could "realize the benefits of genomic medicine that apply to all different cases," Shields said.
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