May 17, 2020

The Human Genome Project solves mystery diseases

3 min
The Human Genome Project solves mystery diseases.jpg
Written by Alyssa Clark Neurological problems, mystery adult illnesses, mental slowness or unexplainable muscle weakness— these are all problems...

Written by Alyssa Clark

Neurological problems, mystery adult illnesses, mental slowness or unexplainable muscle weakness— these are all problems plaguing today’s people, with no cause or solution in sight. Adults and children alike experience strange symptoms whether it be neurologically or physically, but now scientists are suggesting a possible crack in the code when determining the cause of these mystery illnesses. The solution: an analysis of a person’s genetic makeup.

"Many of these are children or adults that have had a mystery illness for many years. Their families don't know what it is and they're sort of desperate for an answer," and it's not possible to find a treatment until you find the cause, he said.

This study is breaking ground as the first of its kind, in a large scale effort to move gene sequencing out of the laboratory and into the everyday practice of medical care— hopes are set pretty high that this technology will pay off.

"This is a direct benefit of the Human Genome Project," the big effort to decode our DNA, said Dr. Christine M. Eng of Baylor College of Medicine in Houston. "We're now able to directly benefit patients through more accurate diagnosis."

The study was published last Wednesday online, in the New England Journal of Medicine with Dr. Eng leading the study. The most recent results show a survey of the 250 patients who were referred to Dr. Eng for her work in a newer type of sequencing (DNA segments which hold the recipes for all the body needs). This type of analysis only accounts for 1 percent of the entire human genome. A total of 1,700 patients have undergone the study so far at Baylor, as they have branched out in testing more patients outside of the study. Eng reported that genome flaws were found in 1 out of 4 people tested.

As more genes are linked to diseases, the diagnoses rate will go us. It already is much higher than it has been in the past, due to the complexity and thorough workings of the genome test.

"For some of these conditions there could be treatments that are lifesaving," said Rebecca Nagy, a scientist at Ohio State University and president of the National Society of Genetic Counselors.

In the initial study of analyzing genes in order to diagnose mystery illnesses of the 2250 patients, 62 of them were found to have genetic flaws. In 33 of those specific cases, only one faulty copy of a gene was responsible. In all 16 other cases, both copies of the gene were bad. Four patients had problems in two different genes, and nine patients had faulty genes on the X chromosome, which spoke to a connection between the faulty genes and men.


About the Author

Alyssa Clark is the Editor of Healthcare Global

Share article

Jul 25, 2021

Getting ready for cloud data-driven healthcare

 Joe Gaska
4 min
Getting ready for cloud data-driven healthcare
 Joe Gaska, CEO of GRAX, tells us how healthcare providers can become cloud-based and data-driven organisations

As healthcare continues to recognise the value of data and digital transformation, many organisations are relying on the cloud to make their future-forward and data-centric thinking a reality. In fact, the global healthcare cloud computing market was valued at approximately $18 billion and is expected to generate around $61 billion USD by 2025. 

At the forefront of these changes is the rapid adoption of cloud-based, or software-as-a-service (SaaS), applications. These apps can be used to handle patient interactions, track prescriptions, care, billing and more, and the insights derived from this important data can vastly improve operations, procurement and courses of treatment. However, before healthcare organisations can begin to dream about a true data-driven future, they have to deal with a data-driven dilemma: compliance. 

Meeting regulation requirements

It’s no secret that healthcare is a highly regulated industry when it comes to data and privacy – and rightfully so. Patient records contain extremely sensitive data that, if changed or erased, could cost someone their life. This is why healthcare systems rely on legacy technologies, like Cerner and Epic EHRs, to manage patient information – the industry knows the vendors put an emphasis on making them as secure as possible.

Yet when SaaS applications are introduced and data starts being moved into them, compliance gets complicated. For example, every time a new application is introduced into an organisation, that organisation must have the vendor complete a BAA (Business Associate Agreement). This agreement essentially puts the responsibility for the safety of patients’ information — maintaining appropriate safeguards and complying with regulations — on the vendor.

However, even with these agreements in place, healthcare systems still are at risk of failing to meet compliance requirements. To comply with HIPAA, U.S. Food and Drug Administration 21 CFR Part 11 and other regulations that stipulate the need to exercise best practices to keep electronic patient data safe, healthcare organisations must maintain comprehensive audit trails – something that gets increasingly difficult when data sits in an application that resides in the vendor’s infrastructure.

Additionally, data often does not stay in the applications – instead healthcare users download, save and copy it into other business intelligence tools, creating data sprawl across the organisation and exposing patient privacy to greater risk. 

With so many of these tools that are meant to spur growth and more effective care creating compliance challenges, it begs the question: how can healthcare organisations take advantage of the data they have without risking non-compliance?

Data ownership

Yes, healthcare organisations can adhere to regulations while also getting valuable insights from the wealth of data they have available. However, to help do this, organisations must own their data. This means data must be backed up and stored in an environment that they have control over, rather than in the SaaS vendors’ applications.

Backing up historical SaaS application data directly from an app into an organisation’s own secure cloud infrastructure, such as AWS or Microsoft Azure, makes it easier, and less costly, to maintain a digital chain of custody – or a trail of the different touchpoints of data. This not only increases the visibility and auditability of that data, but organisations can then set appropriate controls around who can access the data.

Likewise, having data from these apps located in one central, easily accessible location can decrease the number of copies floating around an organisation, reducing the surface area of exposure while also making it easier for organisations to securely pull data into business intelligence tools. 

When healthcare providers have unfettered access to all their historical data, the possibilities for growth and insights are endless. For example, having ownership and ready access to authorised data can help organisations further implement and support outcome-based care. Insights enabled by this data will help inform diagnoses, prescriptions, treatment plans and more, which benefits not only the patient, but the healthcare ecosystem as a whole. 

To keep optimising and improving care, healthcare systems must take advantage of new tools like SaaS applications. By backing up and owning their historical SaaS application data, they can do so while minimising the risk to patient privacy or compliance requirements. Having this ownership and access can propel healthcare organisations to be more data-driven – creating better outcomes for everyone. 

Share article