DNA Day on April 25 is an annual, global celebration of the discovery of the double helix structure of deoxyribonucleic acid (DNA) more than 70 years ago, which transformed how we understand and treat inherited diseases. Today, genomic research, data and testing holds the key to "customized care" enabling the development of medicines targeted for subsets of patients impacted by certain diseases – and helping to ensure the delivery of these targeted medicines to the right patients who can benefit.

Here, Gabriele Allegri, Vice President, Global Precision Medicine, Global Commercial Strategy Organization (GCSO), explains how Johnson & Johnson's Innovative Medicine team is leading the way to give patients and their care teams more time, better information and ultimately, the promise of better health outcomes through the power of precision medicine.

Q1: Let’s start with some basics. What is Precision Medicine?

GA: Precision Medicine is all about keeping the patient at the center of decision-making and it helps your doctor find your unique disease risks and treatments that will work best for you based on your genetic or biologic profile. In the simplest terms, Precision Medicine is about reaching the right patient at the right time with the right medicine.

Q2: How would you explain J&J’s efforts to transform the future of healthcare through Precision Medicine?

GA: At J&J, we’ve led the way in developing targeted therapies. Today, we're developing more precision medicines than ever before, and we anticipate the launch of several precision medicine-enabled indications across our portfolio over the coming years.

We’re also leveraging our evolved understanding of disease mechanisms, patient subtypes, and genomic profiles to help spur the discovery of novel therapies and the development and uptake of comprehensive diagnostics to enable their targeted use across our therapeutic areas. By continuing to serve as "patient partners" – from diagnosis to treatment – to improve outcomes, J&J is on the front lines to advance access to comprehensive genomic testing in routine care and in clinical trials globally. We’re playing an active role in patient identification to help HCPs make informed decisions, while also helping payers make informed, patient-centered reimbursement decisions.

Q3: Can you tell us more about the current testing and treatment landscape?

GA: DNA Day celebrates the ground-breaking discovery of DNA double helix in 1953, which sparked a revolution in how we understand and treat genetically driven diseases. It also commemorates the completion of the Human Genome Project in 2003, which was an ambitious international endeavor that successfully mapped the entire human genome and unlocked unprecedented insights into the genetic basis of human health and disease. Since then, we’ve seen incredible progress in global efforts to tackle inherited diseases – including our R&D team’s work on the world’s largest human genome sequencing project to further increase our understanding of genetic diseases.

Today, new, innovative tests capture and assess more of the sophisticated health clues our bodies reveal every day, helping health care providers decide on appropriate treatment pathways. The powerful combination of personalized DNA/genomic data and other individual health information – or biomarkers – drives earlier intervention, greater personalization of the therapeutic regime, and agile management of the entire patient health journey.

And yet, widespread adoption and use of these powerful new tests has been slow. For us, that just means that there is more work to do on behalf of patients – and that's why we're mobilizing across our portfolio to advocate for the broader adoption of this new generation of sophisticated tests.

Q4: With broader adoption, what can genomic testing truly mean for patients?

GA: We know that early testing, diagnosis, and treatment saves lives. When a patient's body is starting to reveal potentially major health issues, such as cancer, autoimmune or neurodegenerative disease, time and the availability of genomic testing is critical to both doctor and patient. Genomic testing is also hugely helping in the early detection of certain rare inherited diseases that can be challenging to diagnose based purely on symptoms.

Put simply, oftentimes, targeted medicines exist that could benefit patients with certain genetic mutations or biomarkers – possibly as rare diseases – but if you can't find the patient, you can’t treat the patient. That's what makes genomic testing so critically important.

Q5: What is J&J doing to build awareness around advanced testing and advocate for change?

GA: We're taking important steps to accelerate uptake of these clinical "game-changers" internally and across the ecosystem. As a catalyst in the Precision Medicine space, we're advocating for the development of precision diagnostic tests and the availability of these tests for patients worldwide. As a key member of the Precision Cancer Consortium, Personalized Medicine Coalition and The From Testing to Targeted Treatment Program (FT3), we're supporting and collaborating on various cross-industry initiatives aimed at increasing cancer patient access to precision diagnostics. We're also forging key partnerships to advance diagnostic developments and exploring novel approaches to patient identification.

Q6: Can you give us some examples of how innovative new tests are evolving to enable informed treatment decision making?

GA: One example is liquid biopsy. An alternative to invasive procedures like surgical biopsies to obtain tissue samples, liquid biopsy is a non-invasive technique that involves analyzing a simple blood sample for the presence of tumor-derived genetic material. This approach allows oncologists to detect specific cancer-related mutations or genetic alterations, track disease progression, and develop patient-tailored treatment plans and therapies.

For patients, it offers early detection, personalized treatment, and real-time monitoring of treatment response.

Then there's Next Generation Sequencing (NGS), which is an alternative to "traditional" polymerase chain reaction (PCR) tests that often require multiple rounds of testing, which can take more time to generate actionable results. For patients who experience NGS tests earlier in their journey, it may mean earlier use of targeted therapies and greater longevity. We know that patients who received biomarker-driven therapy as a first-line treatment are likely to survive up to three times longer than those who did not.3 That said, the cost of waiting is high, as NGS vs. PCR testing can truly be a life-or-death decision.

Q7: At J&J, we talk about transforming the health of humanity and leading where medicine is going. What does that mean to you, through the lens of Precision Medicine?

GA: There’s no doubt that Precision Medicine continues to offer transformative outcomes for patients, and I'm proud to say that J&J is committed to addressing patients' unmet needs across the therapeutic spectrum. To that end, we're leading efforts to develop individualized treatments based on a patient's genetic profile, environment, and lifestyle, and identifying the patients who may most benefit from our portfolio of targeted therapies. Our goal is to improve the health of humanity by reaching the right patient at the right time with the right medicine throughout the world.

I truly believe that right now, we are at a pivotal moment in the development and adoption of the tests that inform diagnosis and treatment decisions, and our unwavering commitment to patients will continue to drive the pulse of our innovations as we continue to work towards personalized, precise solutions for patients in need.

Published: April 25, 2024

SOURCES:

1Orphanet Journal of Rare Diseases

2Global Genes

3John A, et al. Value of Precision Medicine in Advanced Non-Small Cell Lung Cancer: Real-World Outcomes Associated with the Use of Companion Diagnostics. Oncologist. 2020;25(11):e1743-e1752. doi.org/10.1634/theoncologist.2019-0864