Expanded genomic dataset includes a wider racial diversity which may lead to improved diagnostics and clinical laboratory tests
Human genomic research has taken another important step forward. The National Institutes of Health’s All of Us research program has reached a milestone of 250,000 collected whole genome sequences. This accomplishment could escalate research and development of new diagnostics and therapeutic biomarkers for clinical laboratory tests and prescription drugs.
The NIH’s All of Us program “has significantly expanded its data to now include nearly a quarter million whole genome sequences for broad research use. About 45% of the data was donated by people who self-identify with a racial or ethnic group that has been historically underrepresented in medical research,” the news release noted.
Detailed information on this and future data releases is available at the NIH’s All of us Data Roadmap.
“For years, the lack of diversity in genomic datasets has limited our understanding of human health,” said Andrea Ramirez, MD, Chief Data Officer, All of Us Research Program, in the news release. Clinical laboratories performing genetic testing may look forward to new biomarkers and diagnostics due to the NIH’s newly expanded gene sequencing data set. (Photo copyright: Vanderbilt University.)
Diverse Genomic Data is NIH’s Goal
NIH launched the All of Us genomic sequencing program in 2018. Its aim is to involve more than one million people from across the country and reflect national diversity in its database.
So far, the program has grown to include 413,450 individuals, with 45% of participants self-identifying “with a racial or ethnic group that has been historically under-represented in medical research,” NIH said.
“By engaging participants from diverse backgrounds and sharing a more complete picture of their lives—through genomic, lifestyle, clinical, and social environmental data—All of Us enables researchers to begin to better pinpoint the drivers of disease,” said Andrea Ramirez, MD, Chief Data Officer of the All of Us research program, in the news release.
More than 5,000 researchers are currently registered to use NIH’s All of Us genomic database. The vast resource contains the following data:
245,350 whole genome sequences, which includes “variation at more than one billion locations, about one-third of the entire human genome.”
1,000 long-read genome sequences to enable “a more complete understanding of the human genome.”
Analysis of drugs effectiveness in different patients.
Data Shared with Participants
Participants in the All of Us program, are also receiving personalized health data based on their genetic sequences, which Dark Daily previously covered.
“Through a partnership with participants, researchers, and diverse communities across the country, we are seeing incredible progress towards powering scientific discoveries that can lead to a healthier future for all of us,” said Josh Denny, MD, Chief Executive Officer, All of Us Research Program, in the news release.
“[Researchers] can get access to the tools and the data they need to conduct a project with our resources in as little as two hours once their institutional data use agreement is signed,” said Fornessa Randal, Executive Director, Center for Asian Health Equity, University of Chicago, in a YouTube video about Researcher Workbench.
For diagnostics professionals, the growth of available whole human genome sequences as well as access to participants in the All of Us program is noteworthy.
Also impressive is the better representation of diversity. Such information could result in medical laboratories having an expanded role in precision medicine.
New studies show number of Americans who are unwilling to reveal private health information is growing, hindering medical technology developers
Healthcare consumers appear not only to be raising their expectations of the quality of care they receive, but also in the privacy and security of their protected health information (PHI) as well. This is an important development for clinical laboratories and pathology groups, since they hold large quantities of patient test data.
News reports indicate that, due to the increase in patient distrust about privacy and security, developers of health information technology (HIT) products that collect and transmit patient data are struggling to insert their products into the broader healthcare market.
However, there is a positive side to this trend for medical laboratory professionals. Patients’ interest in tighter security and privacy protections provides pathology groups and clinical laboratory leaders with an invaluable opportunity to inform patients on their lab’s use of cybersecurity measures and to reiterate their commitment to protecting their patients’ data.
Clinical Laboratories Can Ease Patient Fears
It’s not enough that medical laboratories promote their services and efficiencies. They also must tout the capability of their laboratory information management systems (LIMS) to protect a patient’s PHI. That’s critical because recent studies indicate high proportions of healthcare consumers are becoming increasingly wary of how their healthcare data are protected.
The graphic above taken from a 2017 Accenture survey may indicate why healthcare consumer trust in an organization’s ability to secure protected health data (PHI) has eroded so deeply. (Graphic copyright: Accenture.)
Numerous reports of data hacking and security breaches have eroded healthcare consumers’ trust. Patients are more skeptical than ever about the benefits of HIT, such as:
The poll aimed at exploring consumers’ adoption and acceptance of HIT. It found:
87% of consumers are unwilling to divulge all their medical information (up from 66% in 2013);
70% of Americans distrust health technology (a significant increase from 10% in 2014);
And 57% of people who underwent actual encounters with providers’ technology (including ancillary providers, such as clinical laboratories) remain skeptical of HIT.
Even with all the bells and whistles, HIT cannot penetrate the healthcare system if people don’t adopt it, a Black Book news release pointed out.
89% of Patients Withhold Information During Office Visits
Respondents to Black Book’s poll reported being especially alarmed by their data being shared (without their acknowledgement or consent) beyond their hospital and physician. This includes:
Pharmacy prescriptions (90%);
Mental health notes (99%); and
Chronic conditions (81%).
Other key findings from the Black Book poll include the fact that:
89% of consumers withheld health information during their 2016 provider visits;
93% are concerned about security of their personal financial information;
69% say their primary care doctor does not have the technological expertise necessary for them to feel safe divulging extensive personal information.
Missing Data Compromises Care, Analytics
An article in Healthcare IT News reported that fear of breaches is translating to consumers’ reticence to share information. And, the Black Book survey states that data analytics and population health efforts by healthcare providers could be compromised due to consumer distrust, according to a FierceHealthcare article.
“Incomplete medical histories and undisclosed conditions, treatment, or medications raises obvious concerns on the reliability and usefulness of patient health data in application of risk-based analytics, care plans, modeling, payment reforms, and population health programming,” stated Doug Brown, President, Black Book, in the news release.
“This revelation should force cybersecurity solutions to the top of the technology priorities in 2017 to achieve tangible trust in big data dependability,” he concluded.
Patients/Doctors at Odds Over Use of Patient Data
According to the Black Book poll, 91% of people surveyed who use wearable medical tracking devices believe their physician’s EHR should be able to store any health-related data they wish. However, physicians responding to the provider section of the survey stated they have all the information they need. In fact, 94% of the doctors stated patient-generated data (generated by wearables) are “overwhelming, redundant, and unlikely to make a clinical difference.”
The disconnect has led to miscommunication and frustration in the doctor/patient relationship, noted a HealthITSecurity article.
People who struggle to find and understand medical information tend to also be wary of health technologies, such as wearables, patient portals, and mobile apps, noted a UT news release.
Conversely, Americans with a high degree of health literacy are more likely to use fitness trackers and online portals and view them as useful and trustworthy, UT researchers stated.
This study of nearly 5,000 Americans also explored patients’ perceptions of privacy and trust in institutions. Researchers found lower health literacy was associated with more distrust and less adoption of HIT tools.
“There is a pressing need to further the understanding of how health literacy is related to HIT app adoption and usage. This will ensure that all users receive the full health benefits from these technologies in a manner that protects health information privacy, and that users engage with organizations and providers they trust,” the researchers wrote.
Another Dark Daily e-briefing summarized accounts of ransomware and cyberattacks on hospitals and medical labs in 2016. Clinical laboratory leaders are reminded to work with provider teams and appropriate experts to determine the lab’s ability to prevent and withstand cyberattacks.
Labs may glean some ideas from these cybersecurity “2017 must-haves” shared (along with others) in a Healthcare IT News article:
Invest in a risk assessment that makes clear exactly what needs to be protected;
Recognize that beyond medical and billing information, high tech equipment (such as lab analyzers) need to be addressed in planning.
Medical laboratory leaders should not be shy about communicating their lab’s cybersecurity priority, investment, and actions taken to keep their patient’s PHI private and secure. That message could be just what skeptical consumers need to hear and could be well received by the lab’s patients.
If this medical imaging collaborative develops a way to use the unstructured data in radiology images and anatomic pathology reports, it could create a new revenue stream for pathologists
Unstructured data has been regularly recognized as one Achilles heel for the anatomic pathology profession. It means invaluable information about the cancers and other diseases diagnosed by surgical pathologists are “locked up,” making it difficult for this information to be accessed in efforts to advance population health management (PHM) or conduct clinical studies.
Similarly, medical imaging has an essential role in the diagnosis of cancer and other diseases. And, like most anatomic pathology reports, medical imaging also is considered to be “unstructured” by data experts because it is not easily accessible by computers, reported Fortune magazine.
Unstructured Data in Anatomic Pathology and Radiology
Now one of the world’s largest information technology companies wants to tackle the challenge of unstructured data in radiology images. IBM (NYSE: IBM) Watson Health launched a global initiative involving 16 health systems, radiology providers, and imaging technology companies.
The Watson Health medical imaging collaborative is working to apply cognitive computing of radiology images to clinical practice. IBM aims to transform how physicians use radiology images to diagnose and monitor patients. (more…)
Pathologists and clinical laboratory managers can expect that physicians will want to incorporate digital remote patient monitoring into their clinical practices
Swift advances in technology devoted to fitness-tracking devices used by consumers are creating opportunities for physicians to tap that data to remotely monitor their patients. These pioneering efforts show how even medical laboratory testing functions might eventually be incorporated in these fitness tracking products.
Of course, these devices were created for non-clinical functions. But they do allow doctors to get real-time looks at a patient’s vital signs outside of the traditional office visit. Using these consumer electronic devices for medical purposes is part of the larger trend of marshalling technology to produce better patient outcomes and reduce healthcare costs. (more…)
To solve this problem, clinical laboratories can contract with best in class vendors that will put screens on orders and results that filter out inconsistencies
In recent weeks the Department of Health and Human Services announced that more than 50% of doctors and 80% of eligible hospitals would be using electronic health record (EHR) systems by the end of 2013. Although federal officials are celebrating this accomplishment, for the clinical laboratory testing industry, EHR adoption, at best, has been problematic and, at worst, is a financial burden.
Despite increased connectivity, clinical laboratories have had create interfaces between their laboratory information systems (LISs) and the EHRs of their client physicians and hospitals. The federal officials who designed the financial incentives foster meaningful use among all clinicians for EHR adoption, but have not reimbursed labs for the substantial time and expense needed to establish these interfaces. (more…)
