Chapter 3: Look at who is already in the space

In this chapter you will learn to:

• Survey the programs, studies, registries, and groups already working on your condition.
• Identify what existing efforts do not cover, and the likely reasons.
• Decide whether to join, amplify, fill a gap, or build.

Case study: Taking a Beat After a Diagnosis

After sixteen years, my son Charlie was recently diagnosed with a specific genetic variant. There are now precision medicine programs, existing studies, and patient advocacy groups for it, and I am allowing myself to take a beat and look at what exists before I do anything. From what I can tell, a prominent researcher is already working in the field and seems to have some kind of natural history study under way.

Does that mean nobody needs to create a support group, or a natural history study, or another study of any kind? Not necessarily. Does it mean that study covers everything I want to study? Also not necessarily. If the researcher does not have the funding, the bandwidth, or the institutional support to study quality of life, or to do qualitative research, I might reach out and ask how we could collaborate and what I could do to fill those gaps. For now I am giving myself time to see what is already under way before I decide I want my own study, because a study is a huge undertaking.

The question I keep asking myself is what, exactly, I would want to be different in the existing research, and whether that is a reason to start over or a gap to fill alongside it. In my experience, a researcher interested in your specific variant and a parent interested in the same variant could really use each other's voices. We amplify one another rather than replace one another. As well known as I am, someone with a doctorate in this specific field who is already publishing on the population my child belongs to has a very good chance of being taken more seriously as a researcher than I am. As a parent, I would have better luck attracting the things that need parent support. Those are different audiences, and each of us can reach one the other cannot.

What I do not want to do is split the community's data efforts into multiple studies, so that we all suffer. If I create a registry that, to an outside eye, looks a lot like the existing one, a newly diagnosed family has to decide which one to fill out, or splits their energy between the two. People caring for someone with a rare disease, or living with one themselves, may not have the energy to devote to even one registry with the attention that would make it great, because participation takes a long time and a lot of effort. Half an effort applied to each of two registries produces two data sets that are not very good, where one data set could have had all of that time and promotion and support thrown behind it.

Lessons for registry leaders

A diagnosis brings an urge to build. Looking first showed me an existing researcher, the gaps that study may not cover, and the cost to families of two registries that look alike from the outside. The choice to collaborate, to fill a gap, or to build is better made after that look than before it, and it is a choice about the community's energy as much as about the science.

The rules

1. Before building, take a beat. Find the precision medicine programs, existing studies, natural history studies, and advocacy groups for your condition, your variant, or your subgroup, and record what each one does.
2. For each, record what it does not do and why. Funding, bandwidth, and institutional support often leave quality of life, qualitative research, or a whole modality uncovered, and those are the gaps you could fill with them rather than against them.
3. Ask yourself what you would want to be different in the existing research, and whether that is a reason to start over or a gap to fill alongside it.
4. Prefer amplifying to replacing. A researcher's credibility and a parent's voice reach different audiences; each can attract what the other cannot.
5. Do not split the community's energy. Participation takes time and effort, and the people you are asking have little to spare. Two lookalike registries produce two mediocre data sets instead of one good one.
6. A new registry is justified when it adds what the existing one cannot: a modality such as wearables and sensors, a population, a question. When that is the case, write the fit for purpose into the IRB protocol.
7. Reach out before you decide. Ask how you could collaborate and what you could fill in, and give the existing effort a chance to answer.

What AI can do, and what only a person can do

What AI can do

Find published studies, programs, and groups for you to review; summarize a researcher's publications before a call.

What only a person can do

Contact the researcher; judge whether the fit is real; decide to collaborate, to fill a gap, or to build.

Take-home

Look first, because a registry that amplifies an existing effort serves the community better than one that competes with it for the same families' limited energy.

Practice

Exercise

Open the landscape worksheet.

1. Search PubMed and ClinicalTrials.gov for your condition, your gene or variant, and your subgroup. Look for natural history studies, precision medicine programs, larger rare disease registries that include your gene, and advocacy groups.
2. For each effort, record who leads it, what it collects and from whom, what it does not collect, and the likely reason (funding, bandwidth, institutional support, a missing modality).
3. For each gap, decide whether you would join, amplify, fill it alongside the existing effort, or build something new, and record why.
4. Imagine a newly diagnosed family who finds both your planned registry and the closest existing one. Would they know which to choose, and why?

Check your work

There is no single right answer. A complete worksheet names who leads each effort, what each one collects, at least one gap with its likely reason, and a decision with the reasoning behind it. If the decision is to build, the worksheet says what the new registry adds that no existing effort can, such as a modality, a population, or a question.

Your workbook page

The Landscape worksheet page of the Slow Registry Workbook applies this chapter to your own registry. Fill it in online or print it and work by hand. The AI prompt library has a prompt for this chapter's topic, paired with the step only a person can do.

Check your understanding

A researcher already runs a natural history study for your variant, but it does not collect quality of life data. What are your options?

Ask whether you could collaborate to add it; fill that gap alongside the study; or, if neither is possible, build something that adds quality of life data without duplicating what the study already collects.

Why is a lookalike registry a cost to the community?

Participation takes time and energy that caregivers and people living with a rare disease have little of. Two registries that look alike split that effort and produce two weaker data sets instead of one strong one.

Up next: Knowing who the data are for, and who is already collecting them, tells you what to collect, and most of what you need is not sitting in a medical record. Continue to Chapter 4.