Industry Insight

NIH Grants Seek Best Ways to Combine
Genomic Information and EHRs

A dozen awards from the National Institutes of Health (NIH) will support research that incorporates DNA sequence information into EMRs. The goal of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual patients based on their genomic differences.

The grants, administered by the National Human Genome Research Institute (NHGRI), a part of NIH, represent the third phase of the eMERGE program, and focus on moving genomics research closer to clinical application by identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) in about 100 clinically relevant genes. The activity of such genes can affect a person’s health, and might affect treatment choices.

“The newly funded projects are focused on discovering genes and gene variants with clinical implications by using the latest sequencing technologies to examine rare and common variants suspected to relate to disease risk and treatment effects,” says Rongling Li, MD, PhD, program director for eMERGE in the Division of Genomic Medicine at NHGRI. “The other important component of these grants is implementing what researchers learn about these gene variants into medical settings to improve patient care.”

Researchers will look at the best ways to provide DNA test results to physicians and patients, she says, and ways in which doctors might use this information to improve clinical treatment and practice. These funded researchers will also examine the psychological and economic effects on patients and families, and the effects on health care systems, in using this information.

The following research groups have been awarded grants (pending available funds) for four years:

• Group Health Research Institute/University of Washington in Seattle — $3,385,338
Principal investigators: Eric Larson, MD, MPH, and Gail Jarvik, MD, PhD

The researchers plan to study preventable diseases and conditions, including inherited forms of colorectal cancer, high triglycerides, and high neutrophil count. High triglycerides may affect heart health, while a high neutrophil count can signal a disorder involving the immune system. They will use DNA sequencing to examine the genetic makeup of 2,500 individuals and combine this information with EMRs. They will study the effects of sharing such information with patients and families.
 
• Brigham and Women’s Hospital in Boston — $3,832,097
Principal investigators: Scott Weiss, MD; Elizabeth Karlson, MD; Shawn Murphy, MD, PhD; and Jordan Smoller, MD, ScD

Scientists will determine whether rare and common variants found in the protein-coding regions of 25,000 individuals’ genomes are associated with cardiovascular, neuropsychiatric, and immune-mediated conditions described in EMRs. They will also screen 25,000 individuals for disease-causing variants in the LDLR gene, the leading genetic cause of premature coronary artery disease, and examine how such information might be used by patients and physicians.

• Vanderbilt University School of Medicine in Nashville, Tennessee — $3,353,476
Principal investigators: Dan Roden, MD, and Joshua Denny, MD

Researchers will study 100 genes in the genomes of 2,500 subjects at Vanderbilt to identify rare variants associated with human health and drug responses. They also plan to expand a Vanderbilt program, PREDICT, which aims to identify genomic information to predict and help prevent bad drug side effects, and build a pipeline to provide details about variants to doctors and patients.

• Cincinnati Children’s Hospital Medical Center in Ohio — $3,421,156
Principal investigator: John Harley, MD, PhD

Researchers plan to evaluate the role of 100 genes in the genomes of 2,500 patients who agree to receive their test results. Investigators will use this genomic information to help identify the causes of many diseases listed in patient EHRs, and along with genome-wide testing, explore the roles of variants in a number of medical conditions and disorders. In addition, their wide-ranging studies include evaluating the cost-effectiveness of genetic testing, characterizing the genetics of pain, and exploring what genetic test results adolescents want to receive.

• Mayo Clinic in Rochester, Minnesota — $3,435,970
Principal investigators: Iftikhar Kullo, MD, and Stephen Thibodeau, PhD

This research team plans to focus on understanding the underlying genetics of two common genetic disorders—familial hypercholesterolemia and familial colorectal cancer. Investigators will examine the DNA sequences of 100 disease-relevant genes in 3,000 participants with moderate-to-severe hypercholesterolemia or colon polyps. They will determine which genomic variants are most likely to contribute to these disorders, and which should be discussed with patients, families, and physicians. They will also examine the economic implications and behavioral and psychosocial consequences of providing such information.

• Geisinger Health System in Danville, Pennsylvania — $3,517,676
Principal investigators: Marc Williams, MD, and Marylyn Ritchie, PhD

The research team will combine DNA sequence information and health information in thousands of patients’ EMRs to study two disorders: familial hypercholesterolemia and chronic rhinosinusitis. Investigators will examine and test approaches to discussing familial hypercholesterolemia genomic sequencing results with patients and families, and also how family members communicate with one another. They will study the impact of the environment on chronic rhinosinusitis.

• Columbia University in New York City — $3,436,628
Principal investigators: Chunhua Weng, PhD; George Hripcsak, MD; and Ali Gharavi, MD

Researchers studying a large multiethnic population in Northern Manhattan will use genomic information from DNA sequencing and EHRs to find and study genes and genetic variants that contribute to an increased risk for chronic kidney disease, heart failure, breast cancer, liver disease, autoimmune disease, stroke, birth defects, and neurodevelopmental disorders. They hope this research will make disease definitions more precise, help identify patients who need further genomic study and testing, and better predict their disease risks. Investigators will also work with patients, families, and physicians to develop ways to discuss such risks and treatment decisions.

• Children’s Hospital of Philadelphia — $3,625,184
Principal investigator: Hakon Hakonarson, MD, PhD

Investigators will seek to further understand the genetic causes of autism, intellectual disability, ADHD, epilepsy, and obesity. Using DNA sequencing information compiled from tissue samples in a large biorepository, they will characterize rare variants in 2,500 children with one of these disorders or conditions, and return this information to about 160 patients and their families. They will evaluate the effect of this information on patient care, including how it might impact testing and treatment decisions, as well as its potential financial, ethical, and social implications.

• Northwestern University in Chicago — $3,306,716
Principal investigators: Rex Chisholm, PhD, and Maureen Smith, MS

Investigators plan to determine associations between rare variants in at least 100 sequenced genes in 2,500 patients and those more common variants that eMERGE network researchers have collected from previous studies. They will return the information that could be medically useful to physicians and patients to see what its use and impact could be on individual patient care. The researchers will study the best ways to provide these results to doctors, patients, and families, and examine opportunities to discuss related ethical, legal, and social implications of such information.

• Vanderbilt University School of Medicine — $4,206,370
Principal investigator: Paul Harris, PhD

The eMERGE III coordinating center will provide a range of logistical support to the network investigators, including the necessary bioinformatics tools and data-sharing, and organize and maintain working groups and committees. The coordinating center will also work with the Central Genome Sequencing and Genotyping Facilities to provide quality control for DNA sequencing data, manage the network phenotyping and genotype/sequencing datasets for genomic discovery, manage the network website, and facilitate collaborations outside the network.

The eMERGE III network will employ two central sequencing and genotyping facilities. They will carry out and coordinate all of the network’s DNA sequencing and genotyping activities. Genotyping is the read-out of an individual’s genetic makeup. Among other things, investigators will interpret the potential roles of genetic variants in the eMERGE III studies, and their effects on gene function.

The following groups have received funding for four years:

• Brigham and Women’s Hospital — $8,492,617
Principal investigators: Heidi Rehm, PhD; Birgit Funke, PhD; and Stacey Gabriel, PhD

• Baylor College of Medicine in Houston — $8,392,000
Principal investigator: Richard Gibbs, PhD

— Source: National Institutes of Health

 

CHIME Announces New Board Members

The College of Healthcare Information Management Executives (CHIME) has announced the election of members Cletis Earle; Theresa Meadows, RN, CHCIO; and Donna Roach, CHCIO, to its board of trustees.

Earle is the CIO at St. Luke’s Cornwall Hospital in Newburgh, New York. Since joining CHIME in 2006, he has been active in both regional and national activities. Earle is the cochair of StateNet in New York. CHIME’s StateNet fosters information sharing and networking among CIOs to help advance the adoption of HIT at a state level. Earle is also involved in CHIME’s professional development and education efforts, serving as a LEAD Forum speaker and on the planning committee for the annual Fall CIO Forum.

Meadows, senior vice president and CIO of Cook Children’s Health Care System in Fort Worth, Texas, served on the planning committee the Fall CIO Forum in 2014 and 2015. She’s also been a member of the CHIME Professional Development Committee and on the CHCIO item review panel. Having also worked as a registered nurse, Meadows understands firsthand how technology can make a difference in a patient’s life.

Roach is the CIO at Via Christi Health-Ascension Information Services in Wichita, Kansas. A CHIME member since 2006, Roach has been instrumental in the development and growth of the Certified Health CIO (CHCIO) program since its inception in 2009. She sits on the CHCIO advisory panel and is a test reviewer. Roach has also been active in planning CHIME’s Fall and Spring CIO Forums, acting as cochair for the 2015 events.

CHIME also announced the election of Zane Burke, president of Cerner Corp in Kansas City, Missouri, to the CHIME Foundation board of directors.

CHIME’s newly elected board members will begin their three-year terms January 1, 2016. Foundation members serve four-year terms.

In addition, the current CHIME board of trustees elected officers for the 2017 board: Liz Johnson, CIO of acute care hospitals and applied clinical informatics for Tenet Healthcare, was elected chair; Albert Oriel, CIO of Rady Children’s Hospital-San Diego, was elected treasurer; and Myra Davis, senior vice president and CIO of Texas Children’s Hospital, was elected secretary.

The CHIME board also selected Jan-Eric Slot, CIO of Bernhoven Hospital in Cologne, Germany, to serve on the board in an advisor role representing CHIME international members.

— Source: The College of Healthcare Information Management Executives

 

ScribeAmerica Announces Merger With Virginia-Based eScribe

ScribeAmerica, the nation’s largest independent provider of scribe talent and management, has announced the acquisition of eScribe. The merger with the Virginia-based medical scribe company adds an additional 51 locations to ScribeAmerica’s portfolio of more than 1,000 locations nationwide.

Founded in 2010, eScribe has earned a reputation for providing emergency, outpatient, and hospital physicians with well-trained medical scribes. eScribe scribe programs generated financial and clinical performance improvements through detailed and accurate documentation. eScribe’s recently launched virtual scribe program is a natural fit with ScribeAmerica’s TeleScribe service, which allows physicians in rural areas or with smaller practices to enjoy the benefits of a medical scribe program.

“We understand the increased pressures weighing on providers, whether it’s the push for value-based health care or the recent implementation of ICD-10,” says ScribeAmerica’s founder and CEO Michael Murphy, MD. “The integration of eScribe’s programs into ScribeAmerica’s portfolio allows us to reach an even larger clientele base with new and innovative services that aim to improve patient care, provider job satisfaction, and revenue cycle performance.

Earlier this year, ScribeAmerica acquired Southern California-based Medical Scribe Systems, adding an additional 90 locations to its portfolio. ScribeAmerica also recently introduced a care coordination module and real-time point of service coding service, LiveCode.

— Source: ScribeAmerica