Assessing Genomic Sequencing Information for Health Care Decision Making Workshop Summary (2014) / Chapter Skim
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3 Patient Care and Health Decisions
3 Patient Care and Health Decisions
Pages 31-42
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From page 31... ...
• Taking a large gene-panel approach to sequencing may cost less than sequencing genes individually and provides an oppor tunity to collect more information faster; however, obtaining extra information that may not have clinical relevance can make clinical decision making more complicated. • Identifying a process for producing consistent, reliable, and easy to understand genetic and genomic testing reports will en able patients to have greater trust in the information and how it is used for disease diagnosis and treatment.
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From page 32... ...
GENETIC TESTING IN A CARDIOLOGY CLINIC In her work as a nurse practitioner with a specialization in genetics, Kathleen Hickey, an assistant professor of nursing and a family/adult nurse practitioner in the Division of Cardiology at Columbia University, is usually the first member of the health care team to interact with patients and families who have inherited cardiac disease. Cardiomyopathy -- a group of disease characterized by enlarged heart muscle that can weaken over time and pump blood less efficiently -- can be inherited, as is the case with hypertrophic cardiomyopathy, for which 50 to 60 percent of probands have a mutation in one of several genes involved in the sarcomere (Cirino and Ho, 2008)
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From page 33... ...
"That helped us in her care management," Hickey said, and the patient underwent placement of an automatic internal cardiac defibrillator. GENETIC TESTING IN A CANCER CLINIC A large-scale project at the University of Michigan is sequencing tumor and germline dyads as part of the CSER consortium, said Jessica Everett, clinical instructor of internal medicine and a genetic counselor in the Cancer Genetics Clinic at the University of Michigan Comprehensive
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From page 34... ...
Over the past 9 years at the University of Michigan Health System, almost 3,000 new patients have been seen with 21 different conditions in 15 different laboratories, and 3,800 individual genetic tests have been performed, creating a significant amount of data to sort through. Other CSER-funded projects include the Baylor College of Medicine's BASIC3 or Baylor Advancing Sequencing into Childhood Cancer Care which explores the use of blood and tumor exome sequencing for newly diagnosed pediatric patients with solid tumors (Parsons et al., 2013)
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From page 35... ...
More broadly, from a research perspective, the study of rare diseases can be thought of as a chance to implement tools and procedures that will later be used in applications of genomic medicine to much larger populations, Gambello said. It is clear that whole-exome sequencing can help identify the genes involved in Mendelian disorders.
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From page 36... ...
Neuroscientist Amy Hower described how she gained a better understanding of how patients comprehend and process information during a diagnostic odyssey when she and her parents underwent whole-exome sequencing to see if she could find the underlying cause of her cardiomyopathy with ventricular tachycardia after exhausting all other options. "The decision is not just about my health," she said, "but if I want to have children, it could affect the life and the health of my children." Surprisingly, Hower said, sequencing turned up several candidate genes.
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From page 37... ...
There were other findings concerning Hower that were unreported, such as a frameshift or splice site mutation in a gene now known to be related to the disease. "A splice site mutation in a gene that is expressed in the heart, and expressed in the right pathways to possibly cause the problems that I have, would probably be .
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From page 38... ...
Among these, half thought that genomic testing referred to or included constitutional or germline analysis, she said. Gambello agreed that patient understanding depends heavily on the level of education of the patient.
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From page 39... ...
The team takes a four-generation pedigree and then discusses the sequencing of the cancer genome and the germline, including the reasons for doing both. The team also responds to patient questions about family history or the testing process, discusses consent for the return of results, and reviews a flexible informed consent default plan for return of results.
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From page 40... ...
With support from a Robert Wood Johnson Foundation Nurse Faculty Scholar Award, Hickey and colleagues have studied more than 50 patients to find out how they integrated information from cardiac genetic testing into their lives. Overall, they found a positive cardiac genetic diagnosis did not negatively impact a patient's well-being as self-reported through a quality-of-life measure (Hickey et al., 2014)
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From page 41... ...
Gambello agreed that reimbursement definitely plays a role in ordering genomic tests. Sixty percent of the Medical Genetics Clinic patients receive Medicaid, which does not reimburse for whole-exome sequencing.
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From page 42... ...
"If it's useful for your health and your life and even your offspring's life and health," she said, then it seems like it should be covered. Clinicians will need to continue to evaluate targeted versus largescale sequencing while also taking into account financial considerations, patient understandings and needs, and evidence-based recommendations, Gambello said.
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