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NIH Awards $10M to Alabama-based Newborn Genome Sequencing Project

April 26, 2018
by Heather Landi
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The National Institutes of Health (NIH) has awarded a four-year, $10 million grant to HudsonAlpha Institute for Biotechnology, a Huntsville, Ala.-based genomics and genetics research institute, in collaboration with the University of Alabama at Birmingham (UAB) School of Medicine and the University of Mississippi Medical Center, to investigate how genome sequencing can help with the diagnosis and care of babies with birth defects and genetic disorders.

The project, “SouthSeq: DNA Sequencing for Newborn Nurseries in the South,” is part of a network of nationwide sites called the Clinical Sequencing Evidence-Generating Research Consortium, or CSER2, and will enroll infants in neonatal nurseries with birth defects and/or other signs suggestive of a genetic disorder. The project is being led by HudsonAlpha Faculty Investigator Greg Cooper, Ph.D., together with HudsonAlpha Faculty Investigator Greg Barsh, M.D. Ph.D.; and Bruce Korf, M.D., Ph.D., professor and chair of the UAB Department of Genetics.

CSER2 expands HudsonAlpha’s existing large-scale DNA sequencing research project, the Clinical Sequencing Exploratory Research Consortium (CSER), also led by Cooper, in which collaborations with UAB and Children’s of Alabama North Alabama Children’s Specialists (NACS) have provided genetic diagnoses for children with intellectual disabilities and developmental delay. To date, the team has sequenced the genomes of almost 500 children with developmental delay and helped to provide more precise clinical diagnoses to nearly 30 percent.

“The previous CSER project allowed HudsonAlpha to develop the infrastructure, knowledge, and partnerships needed for genomic medicine,” Cooper said in a statement. “This new phase of work will build directly upon that foundation, particularly in underserved and diverse populations for whom genomics and genetics have not been accessible.”

For CSER2, the clinical sites will expand beyond North Alabama to focus on infants in hospitals in other regions of the Deep South. Regions include the Birmingham area and Jackson, Miss., where the project directors are Renate Savich, M.D., division chief of Newborn Medicine, and Brian Kirmse, M.D., associate professor of Pediatrics.

“These regional partnerships improve our ability to help children and their families by providing a genetic diagnosis as early as possible,” Barsh said.

“A major goal of CSER2 is to see if we can empower non-genetics trained health professionals to accurately and thoroughly explain the results of genomic testing to families,” UAB’s Korf. said “Because of a shortage of trained medical geneticists and genetic counselors, we need new paradigms in order to provide the benefits of genomic testing to more patients and families. The need is especially acute in our underserved populations, where new models of return of genomic results could be very valuable in community hospital settings.”

The National Human Genome Research Institute (NHGRI) and National Cancer Institute (NCI) have partnered with the National Institute on Minority Health and Health Disparities (NIMHD) to improve the current processes of recruiting patients to be part of the research, testing and follow-up of study participants from diverse racial and ethnic groups, as well as those from currently understudied clinical healthcare settings where genomic medicine might be put into practice.

In the fiscal year 2017, CSER2 is awarding the grants to six clinical sites, which includes HudsonAlpha, and one coordinating center. The awards extend for a total of four years. The clinical sites – all with a goal of recruiting at least 60 percent of participants from diverse or underserved settings – boast research that covers geographical areas from the racially diverse populations in Houston, Texas, to the underrepresented minority populations in Harlem and the Bronx.

With the help of the coordinating center, which assures the organization and logistical support needed to identify new synergies that increase the scientific value of the six individual projects, CSER2 will continue to develop and enhance the evidence base required to bring genome sequencing to non-academic centers, as well as to diverse patient groups.

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AI in Imaging: Where’s the Bang for the Buck?

January 23, 2019
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Over the past year much has been written about the capability of Artificial Intelligence (AI), and what it will mean for imaging services.  At last year’s RSNA, AI was the featured topic and received the lion’s share of publicity. 

The glamorous aspect of AI and Machine Learning has been how AI can assist the radiologist with diagnosis of imaging studies.  A key area of focus has been in chest imaging (https://www.auntminnieeurope.com/index.aspx?sec=sup&sub=aic&pag=dis&ItemID=616828) where there has been some success in triaging abnormal chest images.  The upside of such applications is improved diagnostic efficiency, particularly as healthcare moves toward value-based care.  The downside is that such algorithms require substantial amounts of data to validate, and they will need to go through the FDA approval process, which will take time before they can be fully implemented.

Ultimately, AI imaging applications will pay off.  But, what about the other potentially less-glamorous aspect of applying AI/Machine Learning to the diagnostic process?  By that, I am referring to its use in terms of workflow orchestration.  Aside from interpreting imaging content, AI/Machine Learning applied to workflow orchestration can provide valuable information and assistance in preparing a case for interpretation. 

Take for example Siemens Healthineer’s AI-Rad Companion application (https://www.healthcare.siemens.com/infrastructure-it/artificial-intelligence/ai-rad-companion).  The application provides automated identification, localization, labeling and measurements for anatomies and abnormalities.  Such a capability can improve the radiologist’s efficiency without necessarily employing an algorithm to assess the image.

Other workflow applications can assess the study and mine relevant information from the EHR to present to the radiologist, again with the goal of improving their efficiency and efficacy.  Still other applications match radiologist reading assignments with available studies to improve reading efficiency.  In another twist, one company has demonstrated a capability to further analyze cases, using AI to assign the next appropriate case to a radiologist without the need for a worklist. 

As healthcare providers consolidate, there is a growing need for improvement in resource utilization across facilities.  Smart worklists that can present cases to individual radiologists across facilities can improve the overall efficiency and efficacy of interpretation.  Rule sets that address radiologist availability, reading sub-specialties, location, etc. can help “level-load” reading resources. 

My point is that while AI applications that manipulate images may hold great promise for the future of diagnosis, areas such as workflow orchestration might offer more immediate results in an environment of changing healthcare.  Providers should take a close look at these applications to assess whether they can achieve a more immediate impact on imaging operations.

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National Library of Medicine Creating Scientific Director Position

January 23, 2019
by David Raths, Contributing Editor
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New position will oversee Lister Hill National Center for Biomedical Communications and National Center for Biotechnology Information

As part of a reorganization of its intramural research activities, the U.S. National Library of Medicine (NLM) has launched a search for a scientific director. The scientific director will oversee a group of 150 scientific personnel, developing new approaches to data science, biomedical informatics, and computational biology.

In a blog post on the library’s website, director Patti Brennan, R.N., Ph.D., called the move a big step in revving up its intramural research operation.

One of the 27 Institutes and Centers of the National Institutes of Health (NIH), NLM creates and hosts major digital resources, tools, and services for biomedical and health literature, data, and standards, sending 115 terabytes of data to five million users and receiving 15 terabytes of data from 3,000 users every weekday.

NLM’s strategic plan for 2017-2027 positions it to become a platform for biomedical discovery and data-powered health. NLM anticipates continued expansion of its intramural research program to keep pace with growing demand for innovative data science and informatics approaches that can be applied to biomedical research and health and growing interest in data science across the NIH.

A Blue Ribbon Panel recently reviewed NLM’s intramural research programs and recommended, among other things, unifying the programs under a single scientific director. That shift also aligns the library with NIH’s other institutes and centers, most of which are guided by one scientific director.

NLM’s  intramural research program includes activities housed in both the Lister Hill National Center for Biomedical Communications (LHC) and the National Center for Biotechnology Information (NCBI). The researchers in these two centers develop and apply computational approaches to a broad range of problems in biomedicine, molecular biology, and health, but LHC focuses on medical and clinical data, while NCBI focuses on biological and genomic data.

But the Blue Ribbon Panel noted that the boundaries between clinical and biological data are dissolving, and the analytical and computational strategies for each are increasingly shared. “As a result, the current research environment calls for a more holistic view of biomedical data, one best served by shared approaches and ongoing collaborations while preserving the two centers’ unique identities, wrote Brennan, who came to NIH in 2016 from the University of Wisconsin-Madison, where she was the Lillian L. Moehlman Bascom Professor at the School of Nursing and College of Engineering.

She added that having a single scientific director should lead to a sharper focus on research priorities, fewer barriers to collaboration, the cross-fertilization of ideas and the optimization of scarce resources.

The new scientific director will be asked to craft a long-range plan that identifies research areas where the NLM can best leverage its unique position and resources. We’ll also look for ways to allocate more resources to fundamental research while streamlining operational support. “Down the road, we’ll expand our research agenda to include high-risk, high-reward endeavors, the kinds of things that raise profound questions and have the potential to yield tremendous impact,” she wrote.

Besides the scientific director, the NLM is also recruiting three investigators to complement its strengths in machine learning and natural language processing.

 

 

 

 

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Survey: Digital, AI Top Priorities in 2019, but EHRs Will Dominate IT Spend

January 22, 2019
by Heather Landi, Associate Editor
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Digital, advanced analytics, and artificial intelligence (AI) are top spending priorities for healthcare executives in 2019, but electronic health record (EHR) systems will dominate technology spending budgets, according to a recent technology-focused healthcare survey.

Damo Consulting, a Chicago-based healthcare growth and digital transformation advisory firm, surveyed technology and service provider executives and healthcare enterprise executives about how the demand environment for healthcare IT is changing and will impact the industry in the coming year. Damo Consulting’s third annual Healthcare IT Demand Survey also analyzes the challenges for healthcare organizations and the perceived impact of macro-level changes.

The report indicates technology vendors will continue to struggle with long sales cycles as they aggressively market digital and AI. For the second year in a row, the rise of non-traditional players such as Amazon and Google will have a strong impact on the competitive environment among technology vendors while EHR vendors grow in dominance.

Among the key findings from the survey, IT budgets are expected to grow by 20 percent or more, with healthcare executives indicating they are more upbeat about IT spend growth than vendors. All the healthcare executives who participated in the survey said digital transformation initiatives are gaining momentum in their enterprises.

However, the majority (75 percent) agree that rapid change in the healthcare IT landscape makes technology decisions harder and only 58 percent believe there are plenty of viable and ready-to-deploy solutions available today in emerging technologies such as AI and digital health solutions. Seventy-one percent agree that federal government policies have provided a boost to healthcare IT spend this past year.

Top IT priorities for healthcare enterprise executives in 2019 are digital, advanced analytics and AI. Of the survey respondents, 79 percent said accelerating digital health initiatives was a top priority and 58 percent cited investing in advanced analytics and AI capabilities as top priorities. However, modernizing IT infrastructure (25 percent) and optimizing EHRs (21 percent) are also significant priorities.

Technology vendors also see AI, advanced analytics and digital transformation as top areas of focus for next year, as those areas were cited by 75 percent and 70 percent of technology and service provider executives, respectively. Thirty-three percent of those respondents cited EHR optimization and 25 percent cited cybersecurity and ransomware. Thirteen percent cited M&A integration as a top area of focus in 2019.

However, EHR systems will dominate technology spending budgets, even as the focus turns to digital analytics, the survey found. Technology and service provider executives who participated in the survey identified EHR system optimization and cybersecurity as significant drivers of technology spend in 2019. Sixty percent of respondents said enterprise digital transformation and advanced analytics and AI would drive technology spend this year, but 38 percent also cited EHR optimization and cybersecurity/ransomware. One executive survey respondent said, “For best of breed solutions, (the challenge is) attracting enough mindshare and budget vs. EHR spends.”

When asked what digital transformation means, close to half of healthcare executives cited reimaging patient and caregiver experiences, while one quarter cited analytics and AI and 17 percent cited automation. As one executive said, “The biggest challenge for healthcare in 2019 will be navigating tightening margins and limited incentives to invest in care design.”

Healthcare executives are divided on whether digital is primarily an IT-led initiative, and are also divided on whether technology-led innovation is dependent on the startup ecosystem.

The CIO remains the most important buyer for technology vendors, however IT budgets are now sitting with multiple stakeholders, the survey found, as respondents also cited the CFO, the CTO, the CMIO and the chief digital officer.

“Digital and AI are emerging as critical areas for technology spend among healthcare enterprises in 2019. However, healthcare executives are realistic around their technology needs vs. their need to improve care delivery. They find the currently available digital health solutions in the market are not very mature,” Paddy Padmanabhan, CEO of Damo Consulting, said in a statement. “However, they are also more upbeat about the overall IT spend growth than their technology vendors.”

Looking at the technology market, healthcare executives perceive a lack of maturity in technology solution choices for digital initiatives, as well as a lack of internal capabilities for managing digital transformation. In the survey report, one executive said, “HIT architecture needs to substantially change from large monolithic code sets to an API-driven environment with multiple competing apps.”

A majority of healthcare enterprise executives view data silos and lack of interoperability as the biggest challenges to digital transformation. And, 63 percent believe the fee-for-service reimbursement model will remain the dominant payment model for the foreseeable future.

In addition, cybersecurity issues will continue to be a challenge for the healthcare sector in 2019, but not the biggest driver of technology spending or the top area of focus for health systems in the coming year, according to the survey.

Healthcare executives continue to be confused by the buzz around AI and digital and struggle to make sense of the changing landscape of who is playing what role and the blurred lines of capabilities and competition, according to the survey report. When asked who their primary choice is when looking for potential partners to help with digital transformation, 46 percent of healthcare executives cited their own internal IT and innovation teams, 17 percent cited their EHR vendor and 8 percent cited boutique consulting firms. A quarter of respondents cited “other.”

For technology vendors, the biggest challenge is long cycles, along with product/service differentiation and brand visibility.

The rise of non-traditional players, such as Amazon, Apple, and Google, will have a strong impact on the competitive healthcare technology environment, the survey responses indicated. At the same time, deeply entrenched EHR vendors such as Epic and Cerner will grow in dominance.

 

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