Want to learn about scientific topics without needing a PhD? Check out the Science Simplified blog from TESS Research Foundation! Dr. Tanya Brown, PhD, works with researchers to make science accessible and empower rare disease community members with scientific knowledge. Dr. Brown has over a decade of experience in neurodevelopmental research and is currently the Scientific Director for TESS Research Foundation. Please reach out to her at [email protected] if you have questions or comments.
Thank you to Tanya Brown, PhD, for writing this article.
Every visit to the doctor creates a new medical record. There’s documentation of the visit, the medications taken, medical procedures, and so much more. Medical records allow our doctors to track important information about their patients, and also allow patients to review their own medical history.
Did you know that medical records can also be used for research? With the appropriate permissions, scientists are able to assess medical records and learn important information about specific diseases or patient populations. This article will review some of the ways medical records can be used for research and how the information from medical records can be used to help understand diseases such as SLC13A5 Epilepsy.
medical record n.
A chronological written account of a patient’s examination and treatment that includes the patient’s medical history and complaints, the physician’s physical findings, the results of diagnostic tests and procedures, and medications and therapeutic procedures.
How are medical records used for research?
There are many different ways that medical records are used for research. We won’t be able to cover all the ways medical records are used but we will cover a few of their uses. Medical records analysis is a retrospective study, meaning the information is collected from something that has already taken place. This is in contrast to a prospective study, which follows individuals over time and watches for outcomes.
Medical records research is also easier for the patients involved in the study. There are no extra appointments or visits required, just sharing the medical records with the scientist. Once the scientist has access to the medical records, this is when they can use all the information to answer questions about a specific disease or patient population.
Sharing the medical records with the scientist is a key step for this type of study. Then, the scientist must scour all the medical records for the appropriate information. If medical records are collected from multiple patients, this can easily be 1000s of pages of information!
Sometimes there are companies, such as Ciitizen or All Stripes, that collect information and extract relevant information from the medical records to share with researchers. This requires patients to sign a consent form that allows the company to collect medical records on their behalf and also allows the company to share that information with researchers. When this information is shared, it is generally shared as de-identified data, meaning the researchers involved in the study will not be able to identify an individual patient. De-identifying data protects patient privacy.
What kinds of questions can be answered with medical records research?
Scientists can use medical records to study individual diseases by collecting medical records from patients with a specific disease, such as SLC13A5 Epilepsy. Scientists can then answer questions such as:
- What does this disease look like over time?
- What are the most commonly used medications?
- How often do patients stay in the hospital?
- How often do specific symptoms occur?
- Are there biomarkers associated with the disease?
- What developmental milestones are met or missed by patients?
There is a plethora of different information captured in medical records. Asking the best questions depends on what the scientist is trying to understand. If all patients frequently undergo a specific type of procedure, this information can be particularly useful. For example, it is common to measure certain things during routine healthcare appointments. Some of these are:
- height
- weight
- blood pressure
- heart rate
These measurements would provide a significant amount of information and researchers could use it to track changes over time. Depending on the type of procedures, there may be other types of information such as blood analysis, EEGs or MRIs captured in the medical records. All of this information provides crucial insight into understanding any disease. The next step becomes extracting the information, organizing the information, and then assessing it for all patients. This can be a challenging step that can provide important information about patient populations.
Why are medical records important for research in rare disease?
Having access to medical records is extremely powerful. With more data, scientists are able to make stronger conclusions that help guide the development of treatments. This is often challenging for rare disease communities with a limited number of patients. For example, sometimes a majority of the patients are young so scientists don’t know what happens to patients as they get older. Having medical records from patients across many different ages is extremely beneficial because this allows scientists to look at how the disease changes over time.
Medical records research is also important for rare diseases because it allows scientists to share important disease information with the treating clinicians, industry partners (who may be interested in developing a therapeutic to help treat a disease), scientists studying the disease, and also with affected families. This information helps provide a better understanding of the disease and improves treatments, as well as facilitates the development of new treatments. Sharing this information also helps to keep research patient-centered, because it focuses on the needs of the patient.
How are medical records being used for SLC13A5 Epilepsy research?
TESS Research Foundation is spearheading medical records research for SLC13A5 Epilepsy as a part of our Digital Natural History Study. Thank you to all the families who are participating! We have partnered with Ciitizen for this study and SLC13A5 patients and families can still sign up here. We received our first round of de-identified data last summer and began asking questions right away. TESS Research Foundation partnered with Dr. Brenda Porter, MD, PhD to analyze this information. We asked questions that were not covered in the current scientific literature and may be useful for clinical studies. Some of these questions were:
- What are the non-neurologic symptoms associated with SLC13A5 Epilepsy?
- What is the overall growth of patients with SLC13A5 Epilepsy?
Because families shared their medical records, we found that SLC13A5 Epilepsy patients had limited symptoms outside the nervous system and that patients had normal growth during the first few years of life. In the limited number of information we assessed from older patients, we found that older patients trended towards having low height and weight. To share this information with the clinical and scientific community, we published our results in a peer-reviewed publication and are sharing the results at research conferences. We are continuing to assess the information from SLC13A5 Epilepsy medical records so that we can share more with our community.
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