Personalized Medicine

Personalized Medicine December 2023 | futureofpersonalhealth.com

An independent supplement by Mediaplanet to USA Today

The genomic test empowering more informed melanoma care

How OncoHost’s PROphet® platform is transforming precision oncology

DecisionDx®-Melanoma from Castle Biosciences

Ofer Sharon, M.D., CEO, and Chris Dingman, CCO, OncoHost

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Introducing Personalized Medicine Personalized medicine relies on diagnostic tests to determine which medicines will work best for each patient. The goal is more efficient and effective healthcare.

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WRITTEN BY Edward Abrahams, Ph.D. President, Personalized Medicine Coalition

hen it comes to medicine, one size does not fit all.

Treatments and prevention strategies that help some are ineffective for others.

We’ve known this for a long time. William Osler (18491919), a Canadian physician sometimes referred to as the father of modern medicine, once wrote that “variability is the law of life. As no two faces are the same,” he noted, “so no two bodies are alike, and no two individuals react alike and behave alike under the abnormal conditions which we know as disease.”

But until the mapping of the human genome 20 years ago, physicians lacked the tools and technologies necessary to understand the reasons for variability among patients.

Physicians treated all patients essentially the same, relying on trial and error to find the right solution to a particular patient’s predicament.

A better future Personalized medicine allows us to do much better. Also called precision or individualized medicine, personalized medicine is an evolving field in which physicians use diagnostic tests — often but not always genetic — to determine which medical treatments will work best for each patient. By combining data from diagnostic tests with an individual’s medical history, circumstances, and values, healthcare providers can develop targeted treatment and prevention plans.

Health systems are still developing and adopting the

updated policies and procedures that are necessary to facilitate the widespread implementation of personalized medicine Change does not come easily.

But because biology is complex, it demands that we employ more sophisticated approaches to treating patients.

As we learn more about the root causes of certain diseases and develop new ways of delivering care to patients at home and in physicians’ offices, proponents of personalized medicine envision a new era of medicine in keeping with Osler’s appreciation of the principle of individual variation.

It will be one that promises better outcomes for patients at lower systemic costs because medicine in the future will become more targeted and more efficient.

Genomic Breakthroughs: Transforming Rare Disease Breakthroughs in personalized medicine promise to help some rare disease patients get on the right treatments, sooner.

A WRITTEN BY Daryl Pritchard, Ph.D. Senior Vice President for Science Policy, Personalized Medicine Coalition

lthough scientists have long understood that most rare diseases are caused by harmful genetic mutations, it often takes years for doctors to identify which gene is causing a patient’s specific disease. The time to get an accurate diagnosis takes a toll on patients and their families, who watch loved ones suffer while they go through a diagnostic odyssey often including dozens of costly tests and visits to various doctors and specialists. Depending on the disease, even after a successful diagnosis, existing daily maintenance medications can prove woefully inadequate.

Fortunately, new types of diagnostic tests emerging in the era of personalized medicine are helping patients get a definitive diagnosis faster. For some patients, newer therapies may also work better.

Genomic sequencing New genomic sequencing technologies can test for thousands of genetic mutations at the same time.

Scientists hope advanced genomic sequencing tests may someday replace the battery of single-gene tests that doctors often use to understand the potential causes of a patient’s symptoms.

Genomic sequencing tests may help shorten the diagnostic odysseys that many rare disease patients must endure before receiving an accurate diagnosis, thereby reducing associated expenses and potentially getting patients on more effective treatments sooner.

Personalized treatments Meanwhile, to improve the prospects for patients with rare diseases after they are diagnosed, the biopharmaceutical industry is developing an emerging group of personalized medicines known as gene therapies.

Gene therapies promise to deliver lasting benefits by reversing the genetic causes of diseases. There are 13 U.S. Food and Drug Administration-approved gene therapies for rare genetic diseases on the U.S. market today.

Regulators expect to approve many more in the years ahead.

Researchers studying the benefits of genome sequencing tests, gene therapies, and other personalized treatments hope their work will help advance a new era in healthcare that quickly targets more effective treatments to rare disease patients who will benefit from them.

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Publisher Razelle Amante Managing Director Julia Colavecchia Production Manager Taylor Daniels Lead Editor Dustin Brennan All photos are credited to Getty Images unless otherwise specified. This section was created by Mediaplanet and did not involve USA Today.

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How a Genomic Test Is Empowering Better, More Personalized Melanoma Care

The DecisionDx®-Melanoma genomic test allows for more informed, risk-aligned decision-making and is associated with improved patient outcomes.

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INTERVIEW WITH Dr. Aaron Farberg, M.D. Chief Medical Officer, Bare Dermatology

INTERVIEW WITH Morgan England Patient WRITTEN BY Dustin Brennan

f you’ve been diagnosed with invasive melanoma, you probably have a lot of questions. The first one may be, “What happens next?”

“The first thing we’re going to do is gather all the information we can about the patient and their unique melanoma,” said Dr. Aaron Farberg, a double board-certified dermatologist and dermatologic surgeon, and the chief medical officer of Bare Dermatology in Dallas.

One of the best tools for gathering that information, Dr. Farberg says, is the DecisionDxMelanoma genomic test from Castle Biosciences. The test analyzes tissue from the patient’s melanoma to check for activity of 31 specific genes that can provide insight into risk of metastasis and recurrence.

Physicians analyze the results of the test alongside other risk factors (e.g., Breslow thickness, tumor ulceration, mitotic rate, patient age) to evaluate the patient’s overall risk and help develop an appropriate plan for treatment and management.

“This is personalized medicine, personalized oncology, individualized care,” Dr. Farberg said. “This test provides a patient with information that can give them a better chance of survival.”

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Multiple studies support Dr. Farberg’s claim. A study published in collaboration with the National Cancer Institute’s SEER Program Registries found that testing with DecisionDxMelanoma was associated with higher three-year survival rates for patients1 and another study found that patients who received the genomic test received their recurrence diagnosis about 10 months earlier than those who did not, enabling them to make more informed health decisions more quickly.2 Patient story Morgan England is one of many patients who was able to make better treatment decisions thanks to DecisionDxMelanoma. In July 2021, she noticed that a mole she had always had on her arm became raised and was changing over the course of several months.

After multiple doctors told her not to worry about it, the mole eventually started to bleed. Her dermatologist had it removed and a week later told England she had Stage 2 melanoma.

“I knew it was cancer,” said England, 31. “I knew it was bad, but I didn’t know how bad.”

She began researching the

condition and determined that she wanted to get the DecisionDx-Melanoma genomic test to give her better insight into her cancer. She asked her doctor to order the test, and England fell into the Class 2A risk group.

“2A — it’s not the worst,” England said. “But it’s not the best, either.”

The DecisionDx-Melanoma test results meant she had a 20% chance of having a positive sentinel lymph node, meaning the cancer may have spread, or metastasized, beyond her primary tumor.

Morgan underwent a sentinel lymph node biopsy surgery, where it was discovered that she had a positive sentinel lymph node. Based on that result, she started treatment, including a daily medication to target a mutation in the melanoma to reduce her risk of recurrence.

Now two years later, Morgan is still cancer free.

“I read through that test report and it makes me feel better,” she said. “It’s been a way that I have coped with anxiety in this diagnosis.”

Better data, better decisions For physicians who have not yet started utilizing DecisionDxMelanoma, Dr. Farberg asks them to put themselves in their patients’ loved ones’ shoes.

“This test unequivocally helps your patients with invasive melanoma, so I urge you — do the right thing,” he said. “If this was your mom, your dad, you’d be ordering this test. Go through the extra steps and do this for your patients, too.”

As a patient, you need to know what resources are available and collaborate with your care team to receive the best care. And when it comes to invasive melanoma, DecisionDx-Melanoma is a critical resource you and your team should be aware of.

“Your health is your own,” England said. “You have to be your own advocate.”

1. Bailey C, Martin B, Petkov V, Schussler N, Stevens J, Bentler S, Cress R, Doherty J, Durbin E, Gomez S, Gonsalves L, Hernandez B, Liu L, Morawski B, Schymura M, Schwartz S, Ward K, Wiggins C, Wu X, Goldberg M, Siegel J, Cook R, Covington K, Kurley S. 31-Gene Expression Profile Testing in Cutaneous Melanoma and Survival Outcomes in a Population-Based Analysis: A SEER Collaboration. JCO Precision Oncology 2023.

2. Dhillon S, Duarte-Bateman D, Fowler G, Hagstrom MNE, Lampley N, Olivares S, Fumero-Velázquez MS, Vu K, Wayne JD, Gastman BR, Vetto J, Gerami P. Routine imaging guided by a 31gene expression profile assay results in earlier detection of melanoma with decreased metastatic tumor burden compared to patients without surveillance imaging studies. Arch Dermatol Res. 2023 Oct;315(8):2295-2302. doi: 10.1007/s00403023-02613-6. Epub Mar 28, 2023. Erratum in: Arch Dermatol Res. Apr 12, 2023: PMID: 36977840.

To learn more, visit MyMelanoma.com

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Biospecimens That Make a Difference High-quality and well-annotated human biospecimens are a core component of personalized medicine research and progress. They are invaluable resources that contribute to the understanding of human health, disease, treatment interventions, and their interaction.

WRITTEN BY Erik Uribe Trinh Nguyen Emily Hubbard Alexandra Giardina Austin Ahamba Andriy Shekhovtsov Rostyslav Semikov Audubon Bioscience

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uman biospecimens are critical building blocks for translational and genomics-based research, laying down an essential foundation for the development of personalized medicine. An unprecedented level of genomic, post-genomic, and precision medicine research is driving the fast-growing demand for high-quality and well-annotated biospecimens.

It becomes the true challenge to find them in order to conduct pre-clinical and clinical research or validation studies.

Especially challenging is that biospecimen acquisition is an industry, and it slows down the whole innovation cycle.

Per the article “Bridging the Gap Between Biobanks and Industry” on FreeLIMS.com, “The lack of connection between biobanks and industry has slowed down the possibilities to use biospecimens for testing new therapies, developing vaccines and strategies for diagnosis. Private companies face difficulties accessing highquality specimens because they mostly originate from public sector healthcare facilities and companies have limited access to such facilities.”

Supporting research Established in New Orleans in 2016, Audubon Bioscience supports cutting-edge precision medicine and cancer research to provide researchers with quality biospecimens and associated data to support the critical work they do in fighting a broad range of diseases.

Scientific needs vary greatly between research organizations, so Audubon has developed a

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wide range of services to support different research partners: small biotechs, large diagnostic and pharmaceutical companies, government, and not-for-profit collaborators like the National Cancer Institute and Centers for Disease Control and Prevention.

Our procurement options include an active biobanking program, clinical remnant acquisition, and custom, built-for-purpose collections.

Key elements of Audubon’s programs include: • Specimen collection: Collection, processing, and storage of various types of biological samples, including blood, plasma/ serum, fresh tissue, FFPE tissue, and more, occurs under stringent quality control measures.

• Distribution: Dedicated country operations and an experienced logistics team ensure that researchers receive specimens and data efficiently and transparently from our site network with a large, diverse global footprint.

• Ethical and regulatory compliance: Audubon operates under the highest ethical standards, including strict adherence to all national and international regulations related to informed consent, confidentiality, and privacy.

Adaptability As precision medicine research has grown and evolved, traditional biobanks often struggle to adapt to current researchers’ needs. It is critical nowadays to procure specimen

sets that exactly match research protocols and account for a new emphasis on understanding critical ethnic-related genetic differences.

Audubon leverages its expansive network of clinical partners to overcome these challenges and provide researchers with built-forpurpose specimen procurement from a diverse global population.

Development of liquid biopsy biomarkers and understanding the different immunity pools in blood versus organs emphasize the need for various matched specimen combinations. Matched sets can be defined as different specimen types collected from the same donor at the same time (i.e. blood and tissue) or same type of specimens collected at multiple time points (a longitudinal collection). These are difficult to procure.

And traditional biobanks often cannot reasonably account for the incredible number of possible specimen type and time point combinations. Matched tissue and blood collections have provided a good example of this thriving complexity. Derivatives like frozen tissue, FFPE, plasma, viable PBMCs, and buffy coat are all requested from tissue and blood, but no dominant combination has emerged.

This leaves traditional biobanks to guess what researchers want and how they will want it processed, which leaves both donors and researchers open to a situation where valuable specimens are potentially wasted. To continue advancing precision medicine and avoid resource drain, researchers and biobanks will need to focus on custom, built-for-purpose collections. Audubon has already begun shifting capabilities to accommodate this. Fifty-four percent of all unique donor cases collected in 2022 were matched

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compared to only 25% in 2020.

Meeting high standards Beyond obtaining the correct specimen format, custom collections help ensure the quality of the material and the accuracy of data by guaranteeing that specified policies and procedures, including quality control, were followed during processing, storage, and transfer regardless of where the samples originated. Audubon has systems in place to enable this flexibility while maintaining the required quality, accuracy, and precision.

The origin of biospecimens is another issue felt acutely by precision medicine research.

Ethnic-related genetic differences lead to diverse incidence, prevalence, and mortality among geographically distant populations.

By sourcing specimens from limited geographic areas, precision medicine researchers may fail to account for the differing biomarker expression and varied prevalence of cancer-driver mutations related to drug response in a more diverse population. Overcoming this challenge, though, requires significant investment as collecting specimens in a safe and ethical manner requires legal and

operational expertise globally.

Audubon has worked to mitigate this risk for its research partners by strategically growing a network of more than 120 clinical partners in 12 countries spanning North and South America, Europe, Africa, and Asia. Within the United States, Audubon’s partner network includes established biobanks, blood banks, reference labs, hospitals, and multi-physician clinics, accounting for a variety of medical conditions and ethnic diversity.

Managing a global network There are two key components to operating a site network as large as this — legal/regulatory affairs and physical operations. Each country presents unique legal and regulatory challenges, so operating a global network requires proficiency in both international and local regulatory environments.

Managing this is no small feat and requires significant resources.

In addition to local country operations teams with on-theground knowledge, Audubon has built a strong internal legal and compliance group dedicated to ensuring specimens are collected legally, ethically, and with patient

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care at the top of mind.

To handle physical operations — including specimen storage, collection, and shipment — Audubon Bioscience has physicians and clinical staff embedded in site monitoring to ensure specimen collection happens safely, accurately, and ethically. It is a novel operational approach that focuses on dovetailing into the workflow of existing research teams where applicable, customizing systems to account for the company’s globally standardized operating procedures, processes, and regulatory documents.

The company maintains a detailed knowledge of accessible patient populations, de-identified data (e.g., medical history, mutation, longitudinal), specimen formats, and allowable uses for our clients’ individual research focus.

The combination of built-forpurpose collections and a vast site network allows Audubon Bioscience to minimize the risk in specimen procurement for precision medicine research without sacrificing patient care, ethics, or quality. As a result, the Audubon Bioscience team supports and accelerates the progress in precision medicine research on a high level.

To learn more, visit audubonbio.com

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Connecting Nations, Impacting Lives At OncoHost, our mission is to transform the approach to precision medicine and improve patient outcomes. Our PROphet® platform is doing just that by helping to solve vital clinical questions faced by providers and patients alike.

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e recently announced significant scientific results analytically validating our predictive proteomics-based PROphet® NSCLC test, as well as the development of a biomarker for immune-related adverse events.

What’s our secret sauce? We collaborate.

In the face of adversity, the power of collaboration knows no bounds. The current Israel-Gaza war has tested the strength and resilience of individuals, communities, and businesses. Amidst these challenges, we are proud to stand as a testament to the unyielding spirit of unity between the United States and Israel in the precision oncology field.

The results are evident; our collective strength and expertise drive the continued adoption of the PROphet® NSCLC test.

Launched in February 2023, it is now being used in over 50 cancer centers across the nation. This groundbreaking, blood-based test fills an unmet need by effectively guiding first-line immunotherapy treatment regimens.

The bottom line is simple: We work harder now than ever.

While war rages on, our Israel and U.S. teams continue to develop, innovate, and educate. This is an example of all the good that comes from our two countries working together. In these trying times, the connection between Israel and the United States stands as a beacon of hope and serves as a reminder that even in times of hardship, the quest for improved patient outcomes knows no bounds.

Written by Ofer Sharon, M.D., CEO and Chris Dingman, CCO, OncoHost

To learn more, visit oncohost.com or email hello@oncohost.com

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Why This Breast Cancer Survivor Wants More People to Join Clinical Trials When Laura Holmes Haddad was diagnosed with Stage 4 inflammatory breast cancer, she felt like she needed a miracle. She shared her experience of receiving lifesaving treatment from a clinical trial and what led her to start advocating for fellow cancer patients.

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aura Holmes Haddad had always seen herself as a healthy person — she practiced yoga, naturally birthed both of her children, and was feeling good in her mid-30s.

“I always ate all my broccoli,” joked Holmes Haddad, now 48.

But six months after the birth of her son Roman, her second child, she felt something was wrong.

“I felt fatigued, I felt a lot of pain in my left arm and my upper chest — I thought I pulled a muscle,” Holmes Haddad said.

After being misdiagnosed with mastitis, Holmes Haddad met with a breast oncologist who discovered an 11-centimeter tumor in her left breast.

“It was just before Thanksgiving 2012 that I learned it had spread and that it was very aggressive,” said Holmes Haddad, adding that the inflammatory breast cancer she was diagnosed with is found in only about 5,000 women each year in the United States.

Treatment Holmes Haddad started meeting with doctors at UC San Francisco’s comprehensive cancer center — which puts a heavy focus on research and experimental therapies — to determine the best course of action. Her new oncologist, Dr. Mark Moasser, ordered a biopsy and genomic testing of the tumor, and found it was breast cancer gene 2 (BRCA2) positive and human epidermal growth factor 2 (HER2) negative.

“He [Dr. Moasser] said, ‘The only hope at this point is that you can get a clinical trial drug based on your genetic markers,’” Holmes Haddad said.

They found a clinical trial offering a treatment that could work at City of Hope

Laura Holmes Haddad (right) and her daughter, Penelope

in Los Angeles, however, there were some issues. The main one was that Holmes Haddad lived in California’s Bay Area, about 350 miles away, and she needed to travel to L.A. on a weekly basis in order to participate.

The costs and time commitment made the trial a major gamble, but it turned out to be worth it. The oral PARP inhibitor she was given effectively reduced the tumor to 7 centimeters in size, the maximum allowable size for surgery.

Holmes Haddad’s care team sprang into action, performing a bilateral nonskin-sparing mastectomy and a salpingooophorectomy. They also removed 19 lymph nodes from under her arms.

She stayed on the clinical trial drug for almost two years after the procedure, but came off of it in May 2015 and doctors said she showed no evidence of disease.

Making lifesaving treatments accessible Since surviving her own battle with cancer, Holmes Haddad has chronicled her experiences for — and advocated on behalf of — other patients. Already a successful food and wine author, in 2016 she published the book “This Is Cancer: Everything You Need to Know, from the Waiting Room to the Bedroom.”

While singing the praises of clinical trials, Holmes Haddad acknowledges the nation’s current system needs improvement. Her primary complaint is that most people don’t have the means to travel long distances to access these cures that are not yet widely available.

“It’s 2023 and unfortunately, I still think luck plays a big part in who can access precision medicine treatments in oncology,” Holmes Haddad said. “That has to change.

Where you live cannot be the determining factor in what kind of cancer care you receive.

“Everyone has to work together to make these clinical trials and treatments more accessible, and also to make patients more comfortable with them.”

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