Preface

Why I care about registries

When Charlie was born in 2010 with infantile spasms, our family joined the many families who complete forms for registries, studies, schools, agencies, and clinics. I have answered the same questions for many organizations, and I know what it takes for a caregiver to answer them well. I have also spent three decades working with research data, and over the years I have advised many patient advocacy groups that found themselves running research without research training. This book is for them, and for the families whose effort every registry depends on.

The registries that work

For several years I have worked with a large multimodal registry for a very rare disease. The risk factors are complicated and the phenotypes are variable, so people present in many different ways, and the study is trying to understand both how the disease progresses and what causes it. That requires multimodal data: surveys, blood draws, electronic health records, wearables and other digital measures, and omics analyses on top of all of it. It is about as complicated as a registry gets.

What keeps it running is not the technology. It is a small team, roughly the equivalent of one full-time person for the registry work itself, following the same habits every week. The team meets weekly. They review everyone who enrolled since the last meeting. They raise anything that needs raising: an IRB question, a vendor problem, a website upgrade, a new sub-study, a question participants keep skipping, a family the team has not heard from in a while. All of it goes to the study coordinators, gets discussed, and is recorded in shared documentation that everyone on the team can find. Without that consistent attention to detail, things would fall through the cracks, and the team would learn about them only when it was too late to fix them.

I have also watched the other kind of registry. A website goes up. Families are expected to enroll, participate monthly, and link their records on their own, and by the end of the year there is supposed to be enough data for a drug company. Without the weekly meeting, the coordinator, and the people who check the data, there usually is not. That difference is the subject of this book.