Precision medicine is a holistic approach to healthcare that combines knowledge of an individuals’ genetic background, environment and lifestyle information into a comprehensive personalized score card that can inform disease treatment and prevention.
New diagnostic tools that compact and match multiple sources of information help labs take advantage of this premise by making precision treatments accessible to more patients.
However, while the capabilities of these diagnostic tools are progressing at a rapid pace, interdisciplinary collaboration and cross-practice commitment to clinical adoption are lagging behind, jeopardizing the benefit patients can receive from the specified tests and informed clinical recommendations precision medicine has to offer.
At the Precision Medicine Leaders Summit (PMLS) series on “Diagnostics for Precision Medicine,” Luca Quagliata, global head of medical affairs for clinical next-generation sequencing (NGS) and oncology at Thermo Fisher Scientific, joined a virtual panel focused on integrating precision medicine into the U.S. healthcare system in order to address the need for more accessible treatment options.
Global head of medical affairs, clinical next-generation sequencing & oncology
Thermo Fisher Scientific
The session was moderated by Daryl Pritchard, Ph.D., senior vice president, Personalized Medicine Coalition, and included panelists from Blueprint Medicines, Precision Medicine Health Advances, USD Sanford School of Medicine and Amgen, among others. During the discussion, Dr. Quagliata shared the following insights around key themes that are shaping integrated personalized medicine:
Addressing “gaps” for effective precision medicine implementation
Luca Quagliata: When it comes to diagnostics, there is no one size fits all. One of the things that is necessary to fully integrate precision medicine into U.S. healthcare is to fill the gap between diagnostic testing in large academic medical centers and community hospitals and address the differences we see between clinical trial settings and routine reality.
"When it comes to diagnostics, there is no one size fits all."
Although certain drugs may gain approval, and with that the indication for testing of associated biomarkers, that does not necessarily demonstrate that the specified biomarker will be broadly adopted outside of large academic centers, with the tumor mutational burden (TMB) being the most recent example. Community health settings have limited resources and must choose which precision diagnostics tools to invest in with their patient population in mind. It is vital to ensure researchers are developing tests and assays that can be used widely in the real world, especially in community hospitals where effectively 80% of oncology patients are treated, to help the most patients possible gain access to treatments.
By exclusively focusing on the goal of regulatory approval, even if that implies using biomarkers with limited applicability in clinical reality, we may set the bar too high and automatically exclude the vast majority of patients from accessing precision medicine, because limited testing equals limited access to targeted therapy. Therefore, it is important to ask ourselves which biomarkers are truly effective not only in their capability to stratify patients, but also in their ability to get patients to targeted treatments.
Encouraging educational initiatives across the industry
Luca Quagliata: Another very important aspect of precision medicine adoption across academic and community health centers is the need for education. Individuals working in large academic medical centers have more exposure to cutting-edge research and innovation in the field. Those who work in the community setting are often overwhelmed with routine work, which limits their chances to access the same level of knowledge as peers in a large academic medical center. Therefore, pharmaceutical businesses, technology providers and assay developers in alliance with medical professional associations must take the first steps toward broadening the accessibility of information. Ultimately, physicians will not order tests if they are not familiar with the process or comfortable understanding the results. The fewer tests ordered by physicians means there are fewer patient screenings and ultimately less access to the best possible treatment decisions.
At Thermo Fisher, we aim to reduce the complexity of diagnostic processes to enhance the way tools are used from a wet lab all the way down to an informatics standpoint. To prevent overwhelming physicians and those conducting analysis at the laboratory level, we develop assays that are targeting what is clinically relevant to mitigate complexities and deliver the necessary information quickly and directly. That way, clinicians are not discouraged by a wall of data, and – when supported by a hospital network – providers can work to leverage this information to make care decisions that are understandable, useable and impactful while being applicable for every patient.
A patient-centric holistic view is the backbone for effective precision medicine integration
Luca Quagliata: True adoption of precision medicine can never happen without buy-in from patient advocacy groups. Today, more patients and groups are asking for and promoting education around biomarker testing. While this level of patient involvement was limited a few years ago, the massive appetite increase for a better-informed and conscious patient journey around treatment decisions is putting positive pressure on physicians to make sure that the correct tests are being ordered early and as often as necessary.
"Today, more patients and groups are asking for and promoting education around biomarker testing."
Together with diagnostic and pharmaceutical industry stakeholders, physicians can now offer highly curated and quality information to patients to inform open discussions about treatment options and possible care.
At Thermo Fisher, we have proudly accelerated our front-line engagement with patient advocacy groups, including partnership with LUNGevity, Go2 Foundation, COLONTOWN, Colorectal Cancer Canada, CureSearch for Children's Cancer, and others, all working to reshape the way cancer can be fought while providing immense support to patients and their families.
To learn more about Thermo Fisher Scientific’s work in accelerating the adoption of precision medicine, please visit https://www.thermofisher.com/us/en/home/clinical/precision-medicine
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