The future of precision medicine: 4 Qs with 2bPrecise CMO Joel Diamond

Precision medicine soon will represent a new standard of care for providers. 2bPrecise™ CMO Joel Diamond, MD, has deep expertise in clinical data integration, having helped develop enterprise-spanning technology platforms that deliver clinical decision support tools to the point of care. Prior to co-founding 2bPrecise, Dr. Diamond was instrumental in developing Allscripts’ health information exchange platform, the dbMotion™ Solution, and served as CMO for population health at Allscripts. 

Here, Dr. Diamond talks about the opportunities and challenges surrounding accelerated consumer interest in genomics as a critical component of their healthcare experience.

Question: Can you describe the precision medicine landscape today?

Joel Diamond: There is no doubt in my mind that precision medicine will be accepted as the standard of care, thanks to rapid advancements in science and research. Concurrently, consumers have become highly aware of the benefits genomic testing offers and demand providers incorporate it with their daily practice.

In my own practice in Pittsburgh, patients ask how we can use genomic tests to identify their risk for disease and come to treatment decisions faster. In this regard, our patients are ahead of us providers, and we need to educate ourselves very quickly. At this stage, not all clinicians are able to effectively answer the 'What next?' questions patients may pose after getting results from an at-home genetic test.

While representing an immediate challenge, I encourage this consumer interest. It means patients are much more engaged, opening the door for meaningful collaboration between patients and providers.

Q: What are the risks of increasingly popular direct-to-consumer genetic tests?

JD: Patients and their providers should be aware of several risks associated with these tests.

Primary among them is the quality of tests themselves. Studies have shown consumer tests sent to different labs sometimes produce different results. At the same time, patients are told that they need genomic testing only once in their lives. If the results aren’t accurate, the value of the test is not only nullified, but may lead to inappropriate care.

Privacy and data rights are also a significant issue. In many cases, the companies that promote direct-to-consumer tests immediately sell the data collected. This strategy to offset their costs is why they can provide testing so cheaply. Making this genomic data broadly available affects not only the individual who consented to the testing; it can identify relatives as well. We have seen this in California recently, where crime suspects were apprehended because of relatives’ DNA testing.

Finally, patients may not understand the limitations of certain genetic tests. An FDA-approved direct-to-consumer test, for instance, tests for BRCA1 and 2 genes, which may indicate risk for breast, ovarian or prostate cancer. But they represent only a handful of the thousands of genetic variations associated with these cancers. If a patient doesn’t understand this, they may view the BRCA1 or 2 test as a definitive 'Yes, you are at risk' or 'No, you are not at risk' answer. They may become defeatist, and say things like like 'There's nothing I can do' or falsely confident and neglect important self-care like breast exams or screenings like mammograms.

Q: How can we begin to address these concerns?

JD: It is imperative we educate both consumers and providers about how to incorporate genomic information into the healthcare process most effectively. We need to aggressively pursue greater understanding about how to best use testing and the resulting data. Transparency and communication are key.

When it comes to data rights and privacy concerns, there are two primary options:

1. All genomic data could be governed by current informed consent, privacy and HIPAA legislation. In other words, results of genomic tests would be protected just like blood tests and other lab procedures.

2. Patients could be allowed to own the data themselves. Many would argue that it is well past time for medical professionals to trust patients with their own information.

Either way, consumer interest in, and demand for, genomic testing will only accelerate. As an industry, we need to figure out the data rights issue immediately.

Q: What is the biggest challenge of incorporating genomic data so physicians can use it effectively?

JD: Genomics in day-to-day care delivery is new, but soon it will be de rigueur. It wasn’t long ago that writing a prescription was a paper-based process, as genomics is today. Even early electronic prescribing forced to physicians to use a second software system, outside their normal EHR workflow. Now eRx is fully integrated.

Genomics must evolve along the same course and quickly. Physicians are in the process of understanding the potential value of genomic data, how it intersects with other clinical indicators (such as environmental factors or comorbidities and related treatments) and how to ensure it can be accessed in a meaningful way as they interact with patients.

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The future of precision medicine: 4 Qs with 2bPrecise CMO Joel Diamond

Precision medicine soon will represent a new standard of care for providers. 2bPrecise™ CMO Joel Diamond, MD, has deep expertise in clinical data integration, having helped develop enterprise-spanning technology platforms that deliver clinical decision support tools to the point of care. Prior to co-founding 2bPrecise, Dr. Diamond was instrumental in developing Allscripts’ health information exchange platform, the dbMotion™ Solution, and served as CMO for population health at Allscripts.

Here, Dr. Diamond talks about the opportunities and challenges surrounding accelerated consumer interest in genomics as a critical component of their healthcare experience.

Question: Can you describe the precision medicine landscape today?

Joel Diamond: There is no doubt in my mind that precision medicine will be accepted as the standard of care, thanks to rapid advancements in science and research. Concurrently, consumers have become highly aware of the benefits genomic testing offers and demand providers incorporate it with their daily practice.

In my own practice in Pittsburgh, patients ask how we can use genomic tests to identify their risk for disease and come to treatment decisions faster. In this regard, our patients are ahead of us providers, and we need to educate ourselves very quickly. At this stage, not all clinicians are able to effectively answer the 'What next?' questions patients may pose after getting results from an at-home genetic test.

While representing an immediate challenge, I encourage this consumer interest. It means patients are much more engaged, opening the door for meaningful collaboration between patients and providers.

Q: What are the risks of increasingly popular direct-to-consumer genetic tests?

JD: Patients and their providers should be aware of several risks associated with these tests.

Primary among them is the quality of tests themselves. Studies have shown consumer tests sent to different labs sometimes produce different results. At the same time, patients are told that they need genomic testing only once in their lives. If the results aren’t accurate, the value of the test is not only nullified, but may lead to inappropriate care.

Privacy and data rights are also a significant issue. In many cases, the companies that promote direct-to-consumer tests immediately sell the data collected. This strategy to offset their costs is why they can provide testing so cheaply. Making this genomic data broadly available affects not only the individual who consented to the testing; it can identify relatives as well. We have seen this in California recently, where crime suspects were apprehended because of relatives’ DNA testing.

Finally, patients may not understand the limitations of certain genetic tests. An FDA-approved direct-to-consumer test, for instance, tests for BRCA1 and 2 genes, which may indicate risk for breast, ovarian or prostate cancer. But they represent only a handful of the thousands of genetic variations associated with these cancers. If a patient doesn’t understand this, they may view the BRCA1 or 2 test as a definitive 'Yes, you are at risk' or 'No, you are not at risk' answer. They may become defeatist, and say things like like 'There's nothing I can do' or falsely confident and neglect important self-care like breast exams or screenings like mammograms.

Q: How can we begin to address these concerns?

JD: It is imperative we educate both consumers and providers about how to incorporate genomic information into the healthcare process most effectively. We need to aggressively pursue greater understanding about how to best use testing and the resulting data. Transparency and communication are key.

When it comes to data rights and privacy concerns, there are two primary options:
All genomic data could be governed by current informed consent, privacy and HIPAA legislation. In other words, results of genomic tests would be protected just like blood tests and other lab procedures.
Patients could be allowed to own the data themselves. Many would argue that it is well past time for medical professionals to trust patients with their own information.

Either way, consumer interest in, and demand for, genomic testing will only accelerate. As an industry, we need to figure out the data rights issue immediately.

Q: What is the biggest challenge of incorporating genomic data so physicians can use it effectively?

JD: Genomics in day-to-day care delivery is new, but soon it will be de rigueur. It wasn’t long ago that writing a prescription was a paper-based process, as genomics is today. Even early electronic prescribing forced to physicians to use a second software system, outside their normal EHR workflow. Now eRx is fully integrated.

Genomics must evolve along the same course and quickly. Physicians are in the process of understanding the potential value of genomic data, how it intersects with other clinical indicators (such as environmental factors or comorbidities and related treatments) and how to ensure it can be accessed in a meaningful way as they interact with patients.

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