The American Neurological Association estimates that with an aging population, approximately 8.4 million Americans will be affected with dementia by the year 2030. The rise in neurodegenerative diseases has been met by a call to action by affected patient communities as well as a significant increase in novel drug development and clinical trials. Still, the vast majority of neurodegenerative diseases remain untreatable.    

It has become clear that developing effective therapies for neurodegenerative diseases will require a more targeted approach than has ever been possible in the past. According to Boston University’s Affinity Research Collaborative in Neurology:

“We hypothesize that the reason current drugs used to treat Alzheimer’s disease (AD) are ineffective and clinical trial studies have largely failed is the assumption that AD is a single disease, when in fact, it has been well documented by clinical, imaging, neuropathological and genetic studies that AD is a heterogeneous disease.”

brain genetics

Alzheimer’s disease, Parkinson’s disease, amyotrophic lateral sclerosis (ALS), and Frontotemporal dementia are ALL heterogeneous diseases — and the key to understanding and treating them may lie in targeting specific causative genetic mutations and pathways.  

By definition, this will require the identification of patients with specific rare genetic subtypes to meet inclusion criteria. But vexingly, another consequence of the lack of effective therapies for neurodegenerative diseases is the lack of insurance coverage for genetic testing, as payers do not consider it necessary for medical management. This leaves clinical trial sponsors in the position of deciding:

  • Should we pay for genetic testing?
  • If so, who is responsible for ordering those tests, and who can disclose the results?
  • What liability do we take on by sponsoring genetic testing? 
  • How can we use the results of testing to guide our other clinical development programs?

The genetics experts at InformedDNA have a decade of experience setting up genetic screening programs in collaboration with our biotech and pharma partners. Here, we address some of the most common questions sponsors pose when considering incorporating genetic testing into their clinical trial programs:

The Right Test

Q1: How does InformedDNA choose the “right test” for patients interested in clinical trials?  

A: Because InformedDNA is financially independent of testing labs, we have the ability to work directly with any lab. This enables us to not only support patients and providers without bias but to also act as an independent consultant to vet genetic tests for clinical research programs. When working with a sponsor, we ensure that the chosen test meets all of the following criteria:

  • Both the lab AND the test are CLIA-certified
  • Panel tests are large enough to meet the needs of the patient population, but avoid the risk of panels with unnecessary genes that return clinically irrelevant data — this requires subspecialty genetics expertise
  • The detection rate is extremely high, with validation data to ensure that the risk of missing potential trial candidates is minimized
  • The sample collection method reduces the burden to the patient and family
  • The lab is willing to customize tests, reports, and/or ordering processes to ensure program success

Q2: We want to obtain whole-exome sequencing data for research purposes, but only report out a small subset of data to patients. Can we do that?

A: Data from whole-exome sequencing can be used for research purposes, as long as the patient explicitly consents to the use of their data for research. At InformedDNA, when our genetic counselors obtain informed consent for testing, we ensure that patients understand what testing will be done, and how that data will be used. Because we have a clinical relationship with the patient, we can also re-contact the patient at any time in the future. 

In 2018, the National Academies of Sciences released a report focused on the return of research results, and they concluded that genetic test results obtained in a research setting should be shared with research participants. They also stated that results disclosure should be done in a way that provides meaning to patients and families, and uses effective communication strategies to minimize the risk of misinterpretation or over-interpretation of results. Our telegenetics processes ensure that sponsors meet these guidelines at the time of consent as well as later, as research findings are reported.    

neuro researcher
Focus on the Patient

Q3: Patients frequently contact our Patient Advocacy department and request help finding a doctor who will order genetic testing. Can InformedDNA help with that?

A: Yes. We provide an end-to-end solution for patient screening and engagement, with genetic counseling, remote informed consent, genetic test ordering, test result disclosure, and study pre-qualification. Patients meet with the same genetic counselor, trained in the genetics of neurodegenerative disease, at each touchpoint, which is critical to building the trust and rapport necessary to enhance clinical trial participation.  

Q4: We would like to start identifying presymptomatic individuals who have genetic mutations in a neurodegenerative disease gene. Are there particular precautions we need to keep in mind when testing individuals pre-symptomatically? 

A: Yes. For decades, the medical community has recognized the psychological risk associated with learning that one has inherited a fatal neurologic disease. With Huntington’s disease, detailed protocols were developed for assessing patient readiness for genetic test results. Ten years ago, the InformedDNA neurogenetics team, in collaboration with a clinical geneticist, developed the first national telemedicine-based program to provide pre-symptomatic genetic counseling and genetic testing to individuals at risk of Huntington’s disease. This model has served as the basis for how we provide pre-test genetic counseling, psychosocial evaluation and intervention, and support for individuals at risk of other adult-onset neurodegenerative genetic diseases. It is widely embraced by our extensive network of referring neurologists. 

Q5: In neurodegenerative diseases, patients and families often have concerns about insurance discrimination. How can we address those worries without taking on legal risk?

A: Genetic counselors routinely discuss issues of insurance discrimination, including the scope and limitations of current laws, with patients prior to genetic testing. In neurodegenerative diseases, this conversation is critical to ensuring that patients understand the potential impact of genetic testing and can provide true informed consent. Our team of neurogenetic counselors is experienced in guiding these conversations and providing patients with information and support to empower decision-making.

Q6: We are interested in receiving feedback from all of the patients who qualify for our trial, even if they don’t choose to participate. Can those patients be referred to our patient advocacy group?

A: Yes, the patient voice is so important to capture, and can lead to:

  • More engaged patient populations, interested in clinical trial opportunities 
  • Valuable patient-reported outcome data, which can provide evidence of the real-world impact of disease and guide protocol development for outcomes assessments
  • Insights about motivators and barriers to clinical trial participation, which are necessary to developing clinical trial programs that maximize the likelihood of patient enrollment and retention
  • Supporting data to present to the FDA, to prove the real-world impact of therapy

Our genetic counselors capture patient-reported outcomes as part of in-depth conversations with patients, families, and caregivers. De-identified, HIPAA-compliant insights are shared with our partners, ensuring that every patient is represented, regardless of their decision to be screened for a trial or speak with a patient advocate.   

Partnering with Providers

Q7: How can we engage physicians outside of our sites to discuss clinical trials with patients? We have been told they don’t want to refer their patients to academic medical centers.  

A: Physicians want the best for their patients, especially those with severe, untreated diseases, and many are eager to introduce appropriate clinical trial opportunities. Physicians in our clinical network report two common barriers to referring patients to clinical trial sites:

  1. They lack the TIME to learn about individual rare diseases and to incorporate genetic testing into their clinical practice.
  2. When a disease is rare or clinical trial inclusion criteria are restrictive, physicians don’t want to RISK losing significant numbers of patients to large academic medical centers when those patients may not even qualify for the study.

Our telegenetics screening model operates like part-time specialist staff for the physician or clinic, eliminating most of the burden associated with ordering testing, disclosing test results, and determining potential trial eligibility. Community physicians retain stewardship of most of their patients and only refer those who meet inclusion criteria to the clinical trial site — everyone benefits.

Genetic Counseling

Q8: Who should order and disclose genetic testing? Should patients always speak to a genetic counselor? Some of our PI’s prefer to order testing themselves. 

A: Genetic testing is ordered by many different providers, including some physicians who are very familiar with the nuances of genetic test results. However, even very knowledgeable physicians often struggle to find the time to answer questions from patients and families about the many implications of genetic test results. For that reason, many study PI’s choose to order genetic testing but request that the results be disclosed to the patient by a genetic counselor, either on-site or in a telemedicine visit. As large panel tests become more common, genetic test results have become even more complex, with patients frequently receiving test reports containing multiple variants of uncertain significance (VUS), or a single finding with multiple possible outcomes — having ready access to genetics specialists addresses these complexities for providers and patients. 

Q9: What do genetic counselors discuss with patients?  

A: Genetic counseling is the process of helping individuals understand and adapt to the medical, psychological, and familial implications of inherited conditions. This process includes:

  • Collection of personal and family histories to inform the individual of their genetic risk and chance of developing the condition
  • Education about inheritance, testing, management, prevention, resources, and research
  • Counseling to promote informed choices about testing and subsequent clinical management options and adaptation to the risk or condition
  • Discussion of research opportunities, empowering patients to become a more engaged participant

Q10: What happens if emerging genetic data changes the interpretation of the initial test result? Do we have to re-contact the patient? Will you?

A: Although there is no legal consensus on this point, multiple guidelines support re-contacting patients with updated genetic test results when the result has a medical implication. Genetic testing labs routinely re-interpret genetic variants and then provide updated results to physicians. However, limited provider resources make re-contacting all patients difficult to achieve. At InformedDNA, we take this burden off of the referring provider and sponsor. When we facilitate genetic testing, updated test results come to the patient’s genetic counselor, who assesses the potential impact on medical management, and re-contacts the patient with updated information.  

Putting it into Practice

With the right clinical genetics partner, sponsored genetic screening programs have been shown to:

  • Accelerate clinical trial enrollment
  • Help sponsors meet enrollment targets with fewer global sites
  • Support decentralized trial models
  • Reduce barriers to screening for patients outside of clinical trial sites
  • Reduce burdens on clinical trial sites, by implementing genetic screening “upstream” of clinical evaluations

As investigational therapies in neurodegenerative diseases become more targeted to rare genetic drivers of disease, eligible patient populations have become significantly smaller and more geographically spread out. InformedDNA is uniquely positioned to meet this challenge using our proven telemedicine model and extensive community-level physician engagement to augment decentralized trials (DCTs). 

Get Informed

Rare disease clinical trial success depends on a well-informed team to decode many of the challenges facing clinical research. Since genetic components add many intricacies to a clinical trial, patient identification and recruitment require strategic thinking and appropriate expertise and resources to ensure the trial’s success.

Learn more about our solutions for sponsors and CROs, including InformedRECRUIT™, which help you overcome challenges with rare disease clinical trial. 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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