Q&A with Karmen Trzupek

Karmen Trzupek, MS, CGC, Director, Rare Disease Genetics and Clinical Trial Services at InformedDNA, talked to Med Ad News about an array of topics including the impact COVID-19 has had on clinical trials throughout the industry.

Med Ad News: Please discuss the process of how mRNA vaccines work and how they have been benefitting the healthcare industry for years.

Karmen Trzupek: Vaccines are used to help a person’s immune system create antibodies to fight an infection, usually caused by a virus. Vaccines can come in different forms, some vaccines use a weakened virus while others use pieces of the virus to train the immune system to recognize the virus and remove it from the body before it can cause symptoms of the disease. An mRNA vaccine uses genetic material or instructions for a piece of the virus. Once injected, one’s body uses the instructions to make a piece of the virus. After that, one’s body sees this piece of virus as foreign and creates antibodies to fight it; this helps to prime the immune system for a real infection by the virus. The mRNA COVID-19 vaccines available specifically contain the instructions for the spike protein that is unique to the SARS-CoV2 virus. mRNA vaccines, in general, have been studied for years and utilized in other areas of medicine. mRNA vaccines have shown promise in cancer treatment, where they are being used to activate the immune system to identify and attack cancer cells. 

Med Ad News: How are new genetic tests and therapies that target specific mutations and conditions making personalized medicine – and subsequently the treatment of many rare conditions – possible for the first time?

Karmen Trzupek

Karmen Trzupek: Unlike many traditional therapies used to treat the side effects of rare disorders, gene-targeted therapies are designed to treat the underlying cause of disease. Rare genetic disorders often (but not always) result from the lack of an essential protein, which is normally produced from the translation of a critical gene. Gene therapy aims to restore normal protein function by providing affected patients with a normal (replacement) gene. If effective, mRNA therapy could be used in place of gene therapy, since mRNA is the intermediate step between DNA and protein production. Other precision medicine therapies aim to similarly treat the underlying genetic cause of disease, but through different mechanisms. For example, RNAi (RNA interference) therapy silences mutated genes by preventing the formation of abnormal proteins. ASO (antisense oligonucleotide) therapies target the underlying cause of disease by correcting aberrant RNA splicing and modifying protein production.

Gene-targeted therapies are being used as an approach to more common multifactorial disorders as well, such as Alzheimer’s disease and age-related macular degeneration, where the resulting disease is known to result from multiple mechanisms and pathways. Targeting a single causative pathway is much more likely to be effective than treating the generic long-term effects of the disease.

Med Ad News: What impact has COVID-19 had on clinical trials throughout the industry?

Karmen Trzupek: Many clinical trials were put on hold or postponed when the COVID-19 pandemic hit. In addition, clinical trials actively enrolling research subjects suddenly faced a new obstacle in patient recruitment. During this trying time, clinicians and clinical trial staff increasingly turned to telemedicine to triage patients and address non-critical needs. Physician practices in the US turned to telehealth resources more than any other response, including staff protection and training and postponement of non-essential appointments. Though COVID’s impact on clinical trials has progressively slowed since this time last year, thousands of clinical trials continue to be affected, primarily due to slowed participant recruitment, according to data analyst firm GlobalData.

Med Ad News: How are clinical trials using telemedicine effectively to identify, recruit and retain patients?

Karmen Trzupek: Telemedicine is a cost-effective and efficient way to identify and support patients for clinical trials, especially when the disease is rare and patient populations are small and geographically dispersed.

Telemedicine is a particularly effective tool for patient screening and pre-qualification for trial eligibility. Historically, a high percentage of patients evaluated at a clinical trial site do not qualify for the clinical trial. By implementing remote telemedicine screening, disease experts can be paired with potentially eligible patients to accurately review medical records, order and interpret testing (including genetic tests), and discuss the potential impact of trial participation on disease management. 

This highly individual and time-intensive nature of clinical trial screening builds rapport and trust between the patient and the disease expert meeting with them, creating an opportunity for continued long-term patient engagement, collection of patient-reported outcomes, and increased participant retention. 

Med Ad News: How can genetic testing be administered without requiring patients to visit trial clinics?

Karmen Trzupek: The availability of telemedicine genetic counselors, combined with advancements in DNA amplification and testing, create an opportunity for patients to undergo genetic screening for clinical trial inclusion without ever leaving home. 

Genetic counselors meet with patients and families via telemedicine to review medical records and ensure that the patient meets criteria for screening. The genetic counselor also discusses the implications of genetic testing on medical management, potential risks to family members, and in some cases impact to insurance policies. Following informed consent, the genetic counselor facilitates genetic testing, with test kits sent directly to patient homes. 

For patients who test positive for the gene of interest for the clinical trial, the genetic counselor can then introduce the study opportunity. Telemedicine screening results in decreased screening costs, increased numbers of patients willing to undergo screening, and an increase in engagement in the subset of patients testing positive.