ONC declares Five pilot sites that have been opted for Sync for Genes program

The Office of the National Coordinator for Health IT has declared five pilot sites that have been chosen for their engagement with different facets of genomic data as part of the recently launched ONC-funded Sync for Genes program designed to assist bring clinical genomics to the point of care.

The five Sync for Genes pilot agencies and their respective focuses are:

• Counsyl with Intermountain Healthcare (Family Health History Genetics)

• The Food and Drug Administration (Sequencing Quality and Regulatory Genomics)

• Foundation Medicine with Vanderbilt University Medical Center (Somatic/Tumor Testing)

• Illumina (Next Generation Sequencing Solutions)

• The National Marrow Donor Program/Be The Match (Tissue Matching)

Gil Alterovitz, who leads the Sync for Genes effort and is a professor at the institute of Harvard Medical School’s Computational Health Informatics Program/Boston Children’s Hospital, claims each of the five pilot sites represent distinct use cases in precision medicine.

“We have made incredible development just in the last few months,” adds Alterovitz. “It is actually wonderful to be capable to move forward and gather these precious insights from real-life settings. As ONC’s Jon White has called the pilot groups, these are the ‘real heavyweights’ in this field.”

“Feedback from the five pilot sites will be utilized by Sync for Genes to ensure the development of open source validation scripts and implementation guidance documents to support requirements in the field of genomics for others to utilize,” states an April 11 ONC blog.

Previously this year, ONC inaugurated Sync for Genes in partnership with the National Institutes of Health to support NIH’s Precision Medicine Initiative. Specifically, S4Genes is supporting the PMI national cohort of 1 million or more Americans—the All of Us research program—who will contribute their physical, genomic, and electronic health record-based clinical information to the landmark study.

For its part, Sync4Genes is meant to make better the genomic information sharing—involving information from next generation sequencing (NGS) laboratories—in a consistent and usable way through point-of-care applications as well as “create a foundation for widespread use of genomic information to be shared in the All of Us research program and future studies,” in accordance to ONC.

“Sync for Genes is our 1st step towards integrating clinical genomics and clinical genomics testing into the point of care by expediting the utilization of standards like HL7’s (Fast Healthcare Interoperability Resources),” claims Acting National Coordinator Jon White, MD. “It is meant to enable and improve patients’ capabilities to seamlessly share their genomic information…we are going to take those standards that we have been working on and we are going to be pilot testing them.”

 

Why interoperability is a significant component for improving research?

Interoperability is considered to be a significant component for improving research and the capability of healthcare investigators to acquire improvements, claims one of the nation’s greatest healthcare IT organizations.

That is among the comments submitted by the American Medical Informatics Association, known as AMIA, for ways to compel researchers to make better the sharing of their work.

The National Institutes of Health, which is the nation’s medical research agency, in the month of November released a request for information on strategies for standardizing how the agency handles data, cites shared data and software, and makes findings and conclusions publicly available.

“Data sharing has become such a vital proximal output of research that we consider the relative value of a proposed project should involve consideration of how its information will be shared,” AMIA stated in its comments. “By utilizing the peer-review procedure, we’ll make incremental improvements to interoperability while recognizing approaches to better data sharing practices over time.”

Interoperability is the key to better sharing of research, claims Jeffrey Smith, vice president of public policy at AMIA. “The purpose is to make sure that whatever data is utilized and created toward results of research will be available for secondary use and reanalysis and reproducibility.”

In the past year, the Cancer Moonshot Initiative championed by Vice President Joe Biden and the Precision Medicine Initiative has put a spotlight on how siloed research data can be, Smith elaborates. Now, the NIH is attempting to break down the silos.

“We can leverage computer speeds and storage at levels not possible a decade ago,” Smith asserts. “Still we’ve very some institutional ways to applaud the worth of data sets and software.”

Subsequently, the NIH RFI concentrates on data management and sharing strategies to make sure that data generated in public research is made available and accurately cited. The NIH initiative, Smith considers, also will shine a spotlight on how some clinical trial agencies actually deposit their data into the NIH clinicaltrials.gov web site.

When researchers submit applications for government grant-supported projects, NIH convenes professionals to analyze and score the projects to evaluate overall quality of the application. The application must have a sharing component, but that component isn’t part of the overall scoring procedure, in accordance to Smith, who calls it “a check-the-box exercise.” interoperability is a significant component for improving research.

Subsequently, AMIA advocates that a plan to share data should be scored during the expert review procedure of grant applications. “Making it scorable means you’ve to spend time and attention on data sharing,” Smith claims, while appreciating this would be a new and key step for researchers for improving research. “Few researchers are not well-versed in collecting, handling and sharing data.”

 

Genomic data sharing needs clinical information and standardization of lab

Michael Watson, executive director of the American College of Medical Genetics and Genomics (ACMG), knows about the worth of laboratory standardization and clinical genomic data sharing in case to deliver the best possible patient care.

Watson asserts that genomic data sharing is crucial to advancing medical breakthroughs for the estimated 5,000 to 7,000 rare genetic ailments, each of which can vary dramatically and be caused by a multitude of various genetic changes.

“I was a laboratory director for twenty years and rare diseases aren’t easy,” claims Watson. “No one person, no one institution, and no one state will ever have sufficient data to actually inform them to the degree that they could be informed to make better the healthcare.”

That is the stark realization behind the latest position statement that ACMG released previous week calling call for “broad sharing” of laboratory and clinical data derived from people who have undergone genomic testing.

“Data that underpins healthcare service delivery should be treated neither as intellectual property nor as a trade secret when other sufferers might benefit from the knowledge being immensely available,” in accordance to ACMG’s position statement.

Although, Watson is the first to appreciate that translating genetic data into healthcare use is a significant challenge.

“It is relatively straightforward to put out a position statement—executing what you are suggesting is the hard part,” he claims. “It takes lots and lots of information from people all over the country, both labs and clinics, to get the kind of information we require helping everybody improve the way they deliver care.”

ACMG’s position statement makes the case that extensive genomic data sharing is important and to improve care by making available the best genomic data sharing possible by which:

• Important clinical attributes of the phenotype of those with genetic diseases can be described


• The qualitative strength of the link between genetic diseases and the underlying causative genes can be developed


• The classification of genomic variants across the range of benign to pathogenic can be created


• Differences in variant interpretation among laboratories can be reconciled


• The suitable classification of variants of uncertain significance can be made


• Standards used in variant classification can be improved

“Broad genomic data sharing is going to be significant,” Watson adds. “But, I think we are still trying to figure out how we do that.”

At the similar time, the ACMG points out that the “analytical issues of migrating and integrating clinical and laboratory data across the genome are daunting.” To deal these issues, the group calls for the standardization of laboratory and clinical data to enable data compatibility as well as interoperability between systems.

“If you are going to work out of an electronic health record (EHR) system, you need that type of consistency across labs and clinics all over the country so that the information that is put in the EHR is completely compatible with everybody else’s,” Watson claims.

He points to the Precision Medicine Initiative, an attempt to map the genomes of a million or more Americans and make the data available to researchers. Particularly, PMI is going to leverage EHRs to assist gather information for the national research cohort, with data about the study’s volunteers that can be derived from their records in terms of medical diagnoses, lab results, and what medications they are on.

Nevertheless, standards by which labs assess genomic variant classification are also significant to finally individualize and tailor treatments for sufferers, in accordance to Watson.

“If you look at the Precision Medicine Initiative, it is predicated on being capable to take data out of electronic health records (EHRs),” summarizes Watson. “That is a pretty complex issue to get your arms around in the absence of underlying standards.”

 

House of Representatives set to vote today on 21st Century Cures bill

After 2 years of legislative wrangling, the House of Representatives is all ready to vote today on the 21^st Century Cures Act bill involving various health IT provisions created to deal the issues of electronic health record usability, interoperability, and data blocking.

Speaking on the floor of the Senate yesterday in advance of today’s House vote, Sen. Lamar Alexander (R-Tenn.) applauded the legislation’s $6.3 billion in appropriations to support the Obama administration’s Cancer Moonshot ($1.8 billion), Brain Research through Advancing Innovative Neuro technologies ($1.6 billion), and Precision Medicine Initiative ($1.4 billion). The bill finds to speed the approval of latest medicines and medical devices, among other provisions.

Alexander, chairman of the Senate health committee, also termed out the 21st Century Cures bill’s attempts to make better the health IT. Noting that the federal government has spent more than $30 billion on incentives to get providers to accept electronic health records (EHRs), he charged that EHR systems are a “mess” and desperately require fixing.

“Various portions of the bill concentrate on 2 critical areas where improvement is required to better leverage health IT and EHRs to their full potential,” claims Ben Moscovitch, manager of HIT at The Pew Charitable Trusts. “Those 2 areas are enhanced interoperability and improved usability and patient safety.”

Cerner, Epic, IBM, Verily, others sign on for Precision Medicine Initiative of Obama

Cerner stated on the day of Thursday that it will pilot an open standardized application as part of the Sync for Science project within President Barack Obama’s Precision Medicine Initiative. And it was merely 1 of the various health IT vendors that hopped on board precision medicine during the President’s Summit.

Driven by the National Institutes of Health and the Office of the National Coordinator for Health Information Technology, Sync for Science is a primary component of the Precision Medicine Initiative in that it targets to recruit 1 million volunteers for a nationwide research project by the year 2019 – an attempt NIH Director Francis Collins, MD, described as "the greatest, most ambitious research project of this sort ever undertaken."

Indeed, a veritable all-star cast of health IT vendors and agencies are included in the project involving Allscripts, athenahealth, drchrono, Epic and Mckesson, as well as as IBM, the Department of Veterans Affairs, and Google’s Verily unit.

IBM, for its part, will join the New York Genome Center to establish an open cancer data repository, leveraging data from Watson to develop new insights into cancer research and personalize treatments through genomic data analysis.