Complex Diseases, Small Populations: Overcoming Challenges in Bringing Precision Medicine Therapies to Market

Genetic testing and precision treatments hold a great deal of promise for millions of patients and families. However, access to these treatments is often limited by geography as well as socioeconomic status. Patients with rare subtypes of common diseases like Alzheimer’s or diseases that are not currently recognized as being linked to genetic mutations face even further barriers to access.

During a recent webinar with BioPharma Dive, “Complex Diseases, Small Populations: Overcoming Challenges in Bringing Precision Medicine Therapies to Market,” panelists Karmen Trzupek, Phil Green, and Ellen Ziegmeier addressed these issues, along with new approaches to expanding clinical research, genetic testing, and counseling to a wider community. 


Helping Different Patient Populations


Karmen Trzupek, our director of rare disease genetics and clinical trial services has extensive experience as a genetic counselor and discussed the difficulties patients face in participating in clinical trials. Traditionally, trials of precision therapies targeted rare genetically linked diseases like cystic fibrosis, sickle cell anemia, and inherited retinal diseases like RPE 65. Increasingly, trials are focusing on more common diseases like breast cancer and ALS. While there are numerous trials looking at precision therapies for common diseases, they often target specific subpopulations of patients with certain genetic mutations. When patients can’t access genetic testing, they have no way of knowing if they have the mutations that allow them to participate in these trials. This means that many patients who could potentially benefit from these treatments cannot receive them. 


Phil Green, an active amyotrophic lateral sclerosis (ALS) patient advocate, was diagnosed with ALS in 2018, with no family history of the disease. Often when a genetic link is ruled out because of a lack of family history, genetic testing is not thought of as being necessary or beneficial. However, as Phil pointed out, the lack of family history does not mean that genetic testing is not useful. A disease could be caused by an as-yet-undiscovered mutation, and widespread testing of patients with the same disease could identify this in the future and provide a clearer picture of the broader number of mutations that might explain the disease in different patients. 


Ellen Ziegemeier, a research assistant with The Dominantly Inherited Alzheimer’s Disease Network at the Washington University School of Medicine, agreed with this assessment. In her work, she has found that even with a family history of Alzheimer’s across multiple generations, often genetic testing will show a lack of the mutations that are currently known to cause Alzheimer’s. By mapping the patient genome, they have found new mutations that appear to be linked to Alzheimer’s. 


Collaborating with Physicians and Health Systems


The value of genetic testing for diseases like these is clear. However, because genetic research is so specialized, it is not cost-effective for many health systems to maintain their own departments that meet the requirements for standard of care. Furthermore, a patient located in rural Nebraska, for example, may be too far from a research facility to access skilled genetic counseling or clinical trials of precision therapies. As Karmen pointed out during the webinar, the ability of our organization to provide these services via telemedicine opens the door for all providers and systems across the country to be able to link their patients to cutting-edge genetic testing and clinical trials. 


This is the heart of the work InformedDNA does to expand access to genomics expertise and services. We support community physicians to ensure that any patient, regardless of location, has the ability to access clinical research and targeted treatments via telemedicine. Additionally, we help to facilitate genetic testing and counseling for family members and can provide support for their providers and health systems if needed. If a patient is diagnosed with a disease like early-onset Parkinson’s, ALS, or hereditary TTR amyloidosis, and it is appropriate to provide genetic testing and counseling for family members, telemedicine can ensure that they can receive those services even if the family is dispersed across the country. 


Prioritizing the Needs of Patients and Families


As pointed out by Ellen and Phil during the webinar, if testing shows that a patient has a mutation that isn’t currently a focus of a trial, it allows them to participate in clinical trials in the future that may target those mutations. In the world of clinical research and genetic testing, there has traditionally been a belief that if a patient were to discover that their disease was caused by a rare genetic mutation that was not currently a focus for treatment, the patient would feel upset that they had gone through the testing for no immediate benefit. However, as Karmen described, for the vast majority of patients, it is a relief to know the cause of their illness even if they can’t participate in a current trial, and it allows them to focus their research and watch for new developments with their particular genetic mutation rather than trying to keep up with every new finding in their disease. 


We believe in a patient-centric approach that empowers patients and families to make the difficult decisions around genetic testing and counseling that are right for them. As both Karmen and Ellen pointed out, in the past, research was approached with a population health focus, and the individual patient was left in the dark around their results. The mindset around this has changed over the years, and there is now a recognition that patients have a right to their research test results if they so choose. Both agreed that this is a choice that is best left up to the patient and individual family members. And all three panelists concurred that genetic counseling, whether it is done in person or via telemedicine, is a critical piece of this because it can help patients and family members make the determination if they want to receive their results or not, and ensure they understand them if they do. 


Often it is not the patient who struggles with the decision to perform genetic testing, but rather, family members. It can feel overwhelming in a disease like early-onset Alzheimer’s to know the actual likelihood of developing it. However, as Ellen pointed out, feelings around this frequently change as someone gets closer to the statistical age where they are more likely to develop symptoms, and it may feel more overwhelming to not know. Knowing genetic markers like this can help family members make those big life decisions. It also puts them in a position to be able to access preventative treatments that may be developed. All three panelists agreed that it is critical to make space for patients and family members to be able to change their minds and access results later and to provide skilled genetic counseling throughout the process, not just testing. 


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InformedDNA’s Role in Genetic Testing and Counseling


Founded in 2007, InformedDNA is the authority on the appropriate use of genetic testing. With the largest, lab-independent, full-time staff of board-certified genetics specialists in the U.S., InformedDNA helps to ensure that pharmaceutical and biotech companies, health plans, hospitals, employers, clinicians, and patients all have access to the highest quality genetic services.

Key offerings for pharmaceutical and biotech companies include support for clinical trial design, patient engagement and recruitment; physician education and engagement; clinical genetic counseling; and, test ordering and interpretation services. Learn more about our solutions for sponsors and CROs. Just submit the short form below. Or, if you’re ready to chat, email us at or call us at 844-846-3763.


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