The traditional way to treat disease is by using a one-size-fits-all approach: A person is diagnosed with a condition or illness, and doctors attempt to cure it or ease symptoms by administering the same therapies given to other patients who share the diagnosis. Many will respond well and get better—but some will not respond to the approach.
“Historically, drugs have been given to a broad population of patients for whom they are approved,” explains Troy Sarich, Ph.D., Chief Commercial Data Science Officer, the Janssen Pharmaceutical Companies of Johnson & Johnson. “However, increasingly, drugs are designed to work only if you express a certain genetic variant or biomarker.”
That’s why teams across Johnson & Johnson are accelerating change toward this new paradigm with a focus on innovative treatments in the emerging field of precision medicine. Precision medicine relies on identifying individual patient characteristics, such as a patient’s genetic profile, to be included in clinical trials of therapies and treatments. If these treatments or therapies are then approved, they can be quickly and properly adopted in healthcare systems around the world. The goal is to treat patients with greater precision—and greater success.
Today, the company is also acting as a catalyst in the precision medicine space, taking on the role of partner, collaborator and educator to change the approach when it comes to testing and access for patients.
While cutting-edge, the idea behind precision medicine isn’t brand new; anyone who has ever received a transfusion based on their blood type has benefited from it. But thanks to numerous advances in genetics, including the completion of the Human Genome Project in 2003, precision medicine and its capabilities have grown exponentially in recent years.
Much of the precision medicine research happening today centers on targeted therapies, which work by homing in on a specific target—often a genetic variation—that only a select subset of patients carries. It’s an exciting step forward for healthcare.
Much of the precision medicine research happening today centers on targeted therapies, which work by homing in on a specific target—often a genetic variation—that only a select subset of patients carries. It’s an exciting step forward for healthcare. Up until recently, scientists were unable to create targeted therapies because the science and technology needed to do so weren’t there yet.
“Precision medicine is about patients having access to the right test at the right time to get the right treatment and increase the chance for the best outcome,” says Sarich.
Here’s how the company is working to deliver targeted treatments to the patients who will benefit most from them—and what this means for the future of medicine.
Developing treatments tailored to patients
Janssen delivered the first targeted therapy in advanced and/or metastatic urothelial carcinoma in 2019 with the U.S. Food and Drug Administration (FDA) approval of a treatment that had previously received FDA Breakthrough Therapy Designation. The company has since deepened its dedication to precision medicine and is currently working to bring a wide variety of new advances to patients.
Company scientists are using precision medicine technology to develop and refine novel treatments for diseases for other areas in oncology and of the cardiovascular system, immune system and neurological system, as well as for pulmonary hypertension, infectious diseases and more.
In 2021, a Janssen medicine became the first targeted therapy approved by the FDA for advanced non-small cell lung cancer in patients with a specific genetic mutation.
In Europe, a Janssen therapeutic was approved by the European Commission in April 2023 for use as a first-line targeted treatment for prostate cancer patients who carry a certain mutation and for whom chemotherapy is not clinically indicated. The therapeutic has since received FDA approval in the U.S. as well.
It’s not enough to launch a new treatment; it is equally crucial to ensure that diagnostic tests, which may reveal whether a patient is likely to respond to a targeted therapy, already exist or are available to patients at the same time.
A different type of precision medicine therapy is currently in Phase 3 clinical trials for people with a rare but devastating form of retinal disease, X-linked retinitis pigmentosa (XLRP). “It’s caused by an inherited defect in one gene, RPGR, and it leads to vision problems in adolescence and complete loss of sight by midlife,” says James List, M.D., Ph.D., Global Therapeutic Area Head, Cardiovascular, Metabolism, Retina & Pulmonary Hypertension, Janssen Research & Development, LLC.
As it is inherited, the disease can run in families. It mostly occurs in males because the RPGR gene is located on the X chromosome, and males only have one copy. Scientists have determined how to give an extra working copy of the gene to people with XLRP. The hope is that this new copy will restore function and preserve vision.
Working to ensure patients don’t miss out on treatments that may help them
Because each targeted therapy is designed for a select group of patients, it’s not enough to simply launch a new treatment. It is equally crucial to ensure that diagnostic tests, which may reveal whether a patient is likely to respond to that therapy, already exist or are available to patients at the same time.
That’s where Flora Berisha, Global Head of Diagnostics Partnering & Development, Precision Medicine at Janssen Pharmaceuticals, and her team come in. Janssen doesn’t develop diagnostic tests in-house but rather partners with diagnostic companies that create these tests. Recently, Janssen has entered into strategic agreements with two global diagnostic companies, Roche and Illumina, to collaborate from development to commercial global availability—with a goal of improving patient access.
Developing new diagnostics is a complex process. Depending on the treatment it’s paired with, a test may need to check for a specific genetic variant, determine how a gene is being expressed or assess whether a certain amount of proteins or enzymes are being produced from particular genes.
Taking a biopsy of a breast cancer tumor that has been surgically removed during a lumpectomy might be somewhat straightforward: A pathologist tests a sample of the tumor to find out what type of cancer it is and if it has certain properties that can help determine if there’s a targeted therapy available to treat it. It’s far more difficult, however, to get such a sample with many other types of cancer. That’s why Janssen launched a lung cancer therapy with a liquid biopsy-based test, explains Andrea Stevens, Ph.D., Director, Precision Medicine Access Strategy at Janssen.
Of course, accuracy and reliability are of utmost importance. “If a test doesn’t work properly, patients could miss out on a therapy they may have benefited from or be potentially subjected to side effects without any benefits because they’re taking a drug that’s not meant for them,” says Stevens.
Speed matters too, says Sarich, who adds that patients—and their physicians—need answers about what will work for them right away so they know what treatment course to pursue.
“With the advent of new technology, we believe we’ll soon be able to expedite test results dramatically,” he says. “Instead of taking a tissue sample, sending it to a lab for analysis and waiting two weeks, one day an AI-enabled computer may be able to look at a tissue-sample image on a slide and analyze it in just a few seconds.”
Spreading awareness among patients—and physicians
New precision medicine treatments have the power to be game-changing for patients—provided they get to use them. Yet there can be major barriers to access, and one of the biggest access barriers is testing.
“Even in major medical institutions, there’s often a delay in awareness that can last two, three or four years after a medicine is approved by health authorities,” says Gabriele Allegri, Head of Global Commercial Strategy, Precision Medicine, Janssen. “If physicians don’t know about new options, patients won’t be tested for them and will instead be given other, potentially less effective treatments.”
“In one study of 1,000 lung cancer patients who were eligible for a targeted therapy, only 36% of them got the right drug at the end of the day,” he says.
Part of the problem, says Stevens, is that changing old protocols is difficult. In prostate cancer, the current standard of care is chemotherapy. But now that Janssen has a new targeted therapy for prostate cancer launching in the EU and U.S., she wants physicians to encourage patients to get tested as soon as possible following their diagnosis to see if they would be a candidate for targeted therapy.
“Some physicians are waiting to test until a patient fails their first-line treatment,” she says. “We want to show the value of testing early, so that physicians can make an informed decision about what the first-line treatment for that patient should be.”
We want pathologists and oncologists to be thinking about testing and considering it when considering treatment options. One of the first steps to achieving that is about generating the evidence that demonstrates the value of this approach.
Widespread education is crucial, adds Stevens. “We want pathologists and oncologists on tumor boards (groups of physicians who review patient cases and formulate treatment plans) to be thinking about testing and considering it when considering treatment options. One of the first steps to achieving that is about generating the evidence that demonstrates the value of this approach.”
“We know that patients eligible for precision medicines do better when they follow precision medicine approaches,” says Sarich. “So we are focused on generating additional evidence to support that and to use that evidence to continue breaking down barriers across multiple stakeholder groups, to accelerate availability and consideration of these novel precision medicine therapeutics.”
When it comes to deciding on a treatment plan, time really is of the essence. That’s certainly true for cancer, which may quickly progress and metastasize. It’s also highly relevant to a condition like XLRP. There’s no cure for this disease, and blindness is irreversible once it has set in. If the gene therapy being developed comes to fruition, potentially eligible patients who are losing vision or have a family history of the disease will need to be tested and treated to protect their remaining vision before they completely lose their sight.
Despite the challenges that need to be worked through, precision medicine holds promise and possibilities. Johnson & Johnson is at the forefront, innovating treatments that are changing healthcare as we know it.
Right now, “every disease has subtypes, and pretty much every drug has responders and non-responders,” says Janice Cruz Rowe, Worldwide Vice President, Retina, Janssen. Her hope is that, in the not-too-distant future, scientific developments will make it possible for patients with almost any condition to get care that is tailored to them.
