Electronic family health history records draw attention

Proposed federal regulation and new tool emphasize digital conversion

A new federal proposal takes a step toward including more family health history information in electronic health records (EHRs).

The proposed rule, released by the Center for Medicare & Medicaid Services (CMS) on March 7, makes building the capacity for storing family health history in an EHR one of a menu of 20 objectives that CMS would consider as evidence that healthcare organizations are making meaningful use of EHRs.

The proposed regulation stems from the Health Information Technology for Economic and Clinical Health Act, part of the 2009 economic stimulus law, which authorizes CMS and the Office of the National Coordinator for Health Information Technology to create incentives for EHR use. The final regulation will take effect in 2014.

A First Step

Although the National Genome Health Research Institute has publicly supported the proposed rule's inclusion of family health history data, few geneticists would consider its basic requirements useful. The proposed rule defines family history as information about only first-degree relatives and requires that just 20% of a healthcare organization's patients have this information in their EHRs.

But a National Human Genome Research Institute (NHGRI) official says the proposed rule represents an important initial step toward the goal of having meaningful health history included in the EHR and moving it between medical settings. “This is CMS's attempt to incrementally improve EHR's ability to get family history,” says W. Gregory Feero, MD, PhD, Special Advisor to the Director, National Human Genome Research Institute, and faculty member at Maine-Dartmouth Family Practice Residency Program. His work at NHGRI in part focuses on making online family history tools more useful by developing ways to analyze the information and guide treatment. “Medical geneticists would love to have information on three or four generations for pedigrees included in these systems but the rule doesn't provide for that. Rather, the proposal is a step toward that goal,” Dr. Feero says.

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The proposed rule defines family history as information about only first-degree relatives and requires that just 20% of a healthcare organization's patients have this information in their EHRs.

Inclusion of just this limited family health history in EHRs would help nongeneticist physicians conceptualize future findings from genomic tests and use them to guide care, he adds. For example, if genomic testing reveals genetic markers indicating risk of a disease, and a strong family history of the disorder, a primary care physician has more reason to pursue a particular line of care. If a patient has risk based on genetic markers and no actual disease in family, the physician may assume less risk, Dr. Feero says.

Considering Pedigrees

CMS has also sought comments on its possible use of a technical standard that would allow pedigrees created in one software package to be viewed and changed in another so they can be accessed in different medical offices. The standard comes from Health Level Seven International, an organization that issues standards for interoperability of health information technology.

The proposed rule is “a baby step” towards the day when practitioners can exchange detailed genetic information and pedigrees, says Kevin S. Hughes, MD, Co-Director of the Avon Comprehensive Evaluation Center at Massachusetts General Hospital and Associate Professor of Surgery at Harvard Medical School. Dr. Hughes is also creator of HughesRiskApps, software that helps physicians determine a patient's risk of hereditary breast, ovarian, and colorectal cancer. He says CMS has issued its rule at a time when EHRs aren't very useful because of a lack of standards, medical specialties' needs for different types of information, and diversity among vendors. “It's asking more than 300 EHR vendors to use this one approach, so CMS is aiming low,” he says.

He notes that although no electronic medical records systems include a robust family history, some can import this information. Certain family history tools, including an online U.S. Surgeon General tool for patients (https://familyhistory.hhs.gov) and a forthcoming computerized March of Dimes tool for prenatal providers, are compatible with the standards set by the proposed rule.

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Dr. Feero urges geneticists to work with their hospitals and healthcare systems to meet the rule's criteria by making sure vendors build the capacity for pedigree into their EMR systems. “Genetic counselors and geneticists have a powerful voice here,” he says.

“Medical geneticists would love to have information on three or four generations for pedigrees included in these systems but the rule doesn't provide for that. Rather, the proposal is a step toward that goal.” —W. Gregory Feero, MD, PhD

A Tool for Prenatal Care

The March of Dimes tool, announced in development in September 2011, takes a detailed family history at the first prenatal visit and helps determine both the baby's and mother's risk for inherited conditions and preterm birth, as recommended in guidelines from the American College of Obstetricians and Gynecologists and American College of Medical Genetics. A coalition including the National Coalition of Healthcare Professional Education in Genetics, the Genetic Alliance, Harvard Partner, and the March of Dimes is now completing development of the Pregnancy & Health Profile. The tool is based on Dr. Hughes' software and will be available as freeware in July, according to Bruce Lin, MPH, Project Director of the Family History for Prenatal Providers and Manager of Public Health Initiatives at the March of Dimes.

The tool is accessed on waiting room computers where women enter family health history via a questionnaire on 27 disorders and disease manifestations. The program then produces risk assessment messages and educational material for prenatal providers based on patient responses, says Lin. The program, for example, asks about Fragile Xby inquiring if men in the family have tremor or ataxia, and if females have premature ovarian failure. If the patient chooses ‘yes,’ the program recommends the obstetrician consider Fragile X screening.

The program also asks about consanguineous marriage, premature births, cystic fibrosis, spinal muscular atrophy, thalassemia, bleeding disorders such as thrombophilia or Von Willebrand disease, hearing loss before age 40, heart and neural tube defects, and long QT syndrome, among others. Questions also address single gene disorders that can affect women's health beyond child bearing and more genetically complex conditions that could impact pregnancy, including cardiovascular disease, diabetes, epilepsy, hypertension, and mental illness.

Geneticists can easily add as many questions and syndromes as they like to the software and use it to create pedigrees, say Drs. Hughes and Lin. “But if you ask 1,000 questions, only a few patients will answer them. With a more limited list, more people will do it,” Hughes adds. Geneticists or genetic counselors can then ask the more detailed questions, he says.

A Preventive Tool

One pilot site, Montefiore Medical Center in the Bronx, New York, uses the program mostly for promoting preventive care during women's pregnancies and beyond. “Some young women see the doctor only when pregnant and most are receptive to implementing changes to improving health then,” says Siobhan Dolan, MD, MPH, a Montefiore medical geneticist and obstetrician. For example, the program could identify longer-term risks to women's health, such as ovarian and breast cancer, and prompt preventative measures, Dr. Dolan explains.

Compilation of family history information often reveals factors associated with potential health risks that might not otherwise come out during a prenatal visit, she adds. For example, a patient may self-identify as a Latino, but when prompted by the program reveal that a grandparent was an Ashkenazi Jew. The program may point to the baby's risk of an inherited disease and prompt a referral to a geneticist, Dr. Dolan says.

According to Dr. Feero, automatic data collection tools like the prenatal software will become more important as use of genomics increases. “This tool is a good way for geneticists to introduce colleagues, especially nongeneticists, to tools that look like this. It's a great way to get ready for the more complex family history tools of the future,” he says.