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To Drive Precision Medicine, Kaiser Permanente Plans to Amass 500K Sample Biobank

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NEW YORK (GenomeWeb) – Kaiser Permanente is building a biobank to enable researchers to perform genomic studies and better understand the relationships between individuals' health, genomics, environment, and behavior.

The health insurer's goal is to collect samples from at least 500,000 of its members. Within the next two years, it plans to develop a translational research center that will study how some of the molecular and genetic information can be incorporated into participants' electronic medical records, Heather Feigelson, co-director of the Center for Excellence in Cancer and Genomics at Kaiser's Institute for Health Research, told GenomeWeb.

Feigelson said that researchers will undertake a wide variety of projects. All participants will submit a blood and serum sample as well as fill out a questionnaire about lifestyle, behavior, and environmental exposures.

Participants will initially fill out a broad consent form that will allow for a multitude of research questions to be asked of their data. The results will be solely for research and will not  be returned to patients, Feigelson said. However, because the ultimate goal is to "transform health," there will eventually be projects in which some data will be returned or incorporated into medical records, she said. For those projects, researchers will be required to obtain a second consent form.

Kaiser already has a biobank containing 200,000 samples that have all been genotyped via a SNP chip, Feigelson said. Recognizing that genomic sequencing costs have come down dramatically was one impetus to expand the biobank to 500,000 samples and potentially do exome or whole-genome sequencing on all the samples.

Feigelson said the researchers are still deciding whether they will perform exome, whole-genome, or targeted sequencing, or chip genotyping, on all of the samples or whether the type of technology will vary between projects.

Regardless of the approach used, Feigelson anticipates that Kaiser will outsource the sequencing. "We don't do whole-genome sequencing within Kaiser Permanente right now," she said, although Kaiser does have capabilities to do more focused sequencing.

In addition, she anticipates that samples will undergo the same broad initial genomic profiling. "We won't be disease specific at first," she said, "but [analyze] more of a large group of people, to keep uniformity."

Details of specific types of projects are currently being worked out, she said, although the group has already settled on two cohorts: a cancer cohort and a pregnancy cohort.

Feigelson said that for the cancer cohort, patients will be identified at diagnosis and asked to enroll. If they consent, researchers will then collect pre-treatment blood samples. In addition, the consent form will be structured such that throughout a patient's course of treatment, if a biopsy is taken, the researchers will be able to get a sample of that, enabling them to collect multiple samples from the same patient throughout the course of the disease. Feigelson said some research questions Kaiser is specifically interested in studying are the long-term effects of cancer treatment, as well as a tumor's genomic characteristics and how it correlates with therapy response, side effects, and long-term survival.

She added that so many studies have been done or are currently being performed on cancer etiology, but that Kaiser would be interested in studying long-term impacts.

Researchers studying pregnancy will enroll pregnant women and collect blood from those in their third trimester to study reproductive outcomes and long-term health outcomes of both the mothers and their babies, Feigelson said.

Within the next year or two, Kaiser will establish a translational research center that will start to figure out how to incorporate genomic information into patients' medical records, she said.

The details of the translational center have not yet been determined, she said, but the center would likely start small — developing a way to incorporate information about specific pharmacogenomics variants, for instance. 

Pharmacogenomic variants are "well validated markers, so bringing those types of things in first," makes sense, she said. But, aside from just adding the markers to the medical record, there would have to be an educational component, making sure the physician, pharmacist, and patient are all comfortable with the information, she said.

Already, a number of large healthcare providers have started transitioning large-scale genomic research studies into the clinic, typically by starting narrow and incorporating just pharmacogenomics data or information from a handful of well-annotated disease-related genes into the medical record.

The Mayo Clinic, Inova Translational Medicine Institute, and Geisinger Health System are some of the providers with such programs in place.

The Mayo Clinic, for example, has built a biobank of 50,000 samples from patients who have consented to broad research. As part of an eventual effort to incorporate genomic data from whole-genome sequencing, the center is first looking at pharmacogenomic variants in 84 genes related to drug metabolism in 10,000 individuals, and incorporating results from five of those gene into the patients' medical records.

Meantime, the Inova Translational Medicine Institute has been offering research-based newborn whole-genome sequencing for the last five years. Earlier this year, it began offering parents the option of having their newborns tested for PGx variants in seven genes.

Geisinger Health System, which has a research project to sequence the exomes of 250,000 members, last year launched a clinical arm of the project to return results from 76 genes related to monogenic conditions and plans to expand that to also include pharmacogenomic variants.

Prior to announcing the launch of the biobank, Feigelson said, Kaiser conducted a pilot study and convened a community advisory board, which consisted of non-medical members from Kaiser's various regions to help voice concerns of the community and to make sure materials, such as the consent form, were appropriate and clear.

Feigelson said it was interesting to see how aware the advisory board already was about genomics and precision medicine. "I think people understand it," she said. "It's been interesting to see how genetics is becoming more common in people's conversations."

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