Self-reported data from a patient registry is a valuable resource for researchers

By Vanessa Rangel Miller, Invitae

Invitae’s Patient Insights Networks (PINs) are web-based patient opt-in registries that can provide reliable data for researchers, particularly for rare diseases. Disease registries are not a new concept in clinical research. Investigators have long used registries to aid in hypothesis generation, data mining, and clinical trial recruitment, among other utilities. Yet there remains some skepticism by researchers regarding the reliability of patient-entered data. At times, this has limited the potential of research, especially in rare diseases with low incidence.

A recent study published in PLoS One1 suggests this skepticism is unfounded. The study concludes that the symptom incidences self reported by patients in an online registry were consistent with clinician-sourced symptom data, demonstrating the reliability and potential for clinical utility of patient-entered information.

Case study

Neurofibromatoses are particularly difficult to research, in part due to the rarity and variability of these disorders. The advocacy and research group Children’s Tumor Foundation (CTF), in collaboration with Invitae, created a PIN for individuals with neurofibromatoses (NF1, NF2, and schwannomatosis).

Patients—or parents/guardians of minor patients—could use this patient opt-in registry to complete a HIPAA-compliant online questionnaire that included demographic, disease-specific, and quality-of-life questions. Patients were also invited to include any genetic testing results in their secure online profile.

Patient criteria from the PIN was then statistically compared against clinician-reported NF criteria from the literature. The patient-entered symptom incidences from the PIN were largely congruent with literature-reported incidences.

The potential for reliable data from patient registries extends beyond hypothesis generation to clinical trial recruitment, quality-of-life studies, outcome studies, post-market surveillance, development of disease management guidelines, and any clinical utility that could benefit from a large pool of otherwise difficult to obtain patient data.


As part of our efforts to improve healthcare, Invitae offers PINs to benefit patients, advocacy groups, and even biopharmaceutical companies:

Patients – Learn more and then join a PIN to securely contribute data about your personal experience with a disease, learn how others manage similar health journeys, and receive information about the latest research and clinical trial opportunities.

Advocacy groups – Join one of our existing PINs or build a new one to organize patients around the world and accelerate the search for new and better treatments in a way that puts patients’ privacy first. Learn more.

Biopharmaceutical companies – Learn more about PINs and then contact us to discuss how PINs can identify qualified patients for rapid recruitment, capture clinical data and patient-reported outcomes, and build engaged patient communities.

Researchers – Browse our existing PINs and contact us if you are interested in collecting de-identified, patient-provided data in any clinical area.

1. Seidlin M, Holzman R, Knight P, Korf B, Rangel Miller V, Viskochil D, Bakker A; Children’s Tumor Foundation. Characterization and utilization of an international neurofibromatosis web-based, patient-entered registry: An observational study. PLoS One. 2017. 23;12(6):e0178639.