Diagnosis strategy for rare & genetic disease
Bailiwick Dx Strategies helps sponsors and patient organizations measure the diagnosis gap, close it, and keep it closed, so fewer years are lost to the diagnostic odyssey and more people reach the care that already exists for them.
For BD and new product planning, commercial strategy, medical affairs, and patient advocacy. Scoped as a fixed deliverable or as a standing fraction of the function.
Where patients are lost
The problem
Approval doesn’t find patients. Each part of the gap below has a commercial cost to the sponsor and a human cost to someone still waiting for an answer.
Forecasting
Prevalence says how many people have the condition. It doesn’t say how many have a diagnosis today, how many of the rest can be found, or what finding them costs. When those numbers are wrong, the uptake curve flattens and nobody can say why.
Behind the number: people who would qualify for treatment and don’t know it yet.
Ownership
It spans medical affairs, commercial, clinical development and informatics, so it rarely sits with anyone. At any company size it is hard to justify as a headcount and hard to staff well.
Behind the number: families whose odyssey goes on while the work falls between teams.
Method
Approaches built for populations in the millions break down at a few thousand, or a few hundred. A rare disease needs estimates grounded in testing, claims and variant-level data, not panel opinion.
Behind the number: programs aimed at the wrong clinics while patients wait somewhere else.
Policy
OIG has issued a run of favorable advisory opinions on sponsored testing, each with specific guardrails.5 The federal newborn screening advisory committee was terminated in 2025, so nominations are now made state by state.4
Behind the number: newborns screened in one state and missed in the next.
What Bailiwick does
Three engagements that build on each other, and a fourth that supplies the capacity to run any of them inside your team.
01 · BENCHMARK
How many are diagnosed today, how many of the rest can be found, and what does it cost to move the number?
Diagnosed share in unique patients, the findable fraction separated from the theoretical ceiling, and three investment-to-yield scenarios benchmarked to comparable launches.
02 · BLUEPRINT
Where are patients lost on the path to diagnosis, and which levers close the gap?
A leakage map from referral to confirmation, including patients who were never tested, plus ranked levers with compliance guardrails and measurement defined before launch.
03 · ADOPTION
How does earlier diagnosis become standard practice rather than a campaign?
Guideline and society engagement, clinical pathway and diagnostic algorithm work, and newborn screening strategy, including state nominations after the ACHDNC.
04 · FRACTIONAL
What if you need the function before you can hire it?
An embedded, senior diagnostics lead: vendor, lab and data-partner diligence, internal deliverables built to your review cycles, and liaison across medical, commercial, legal and advocacy.
Worked example
An interactive walk-through of the Benchmarking method on a hypothetical rare genetic condition. Change the assumptions and watch where the diagnosed count moves, and where it doesn’t.
How many people truly have the condition, from several independent lines of evidence.
Who has an answer today, by age band, and where the rest are.
The biggest lever is often not the obvious one. That is the kind of finding a launch plan should be built around.
How the work is done
i.
Every count is a person. Claims and encounter data are de-duplicated before anything is called a patient.
ii.
Every input is referenced, every assumption is flagged, and the model is yours to edit. You never have to take a number on faith.
iii.
Ranges are reported honestly. Where the data is thin, the work says so and says what would narrow it.
iv.
Recommendations are built inside current OIG guidance from the start, so legal review is a check rather than a redesign.
Who Bailiwick works with
Sponsors with rare and genetic disease assets, from pre-deal diligence through launch and lifecycle.
Foundations and societies building the case for testing, screening and earlier recognition.
Programs, labs and health systems weighing new conditions and diagnostic workflows, served under a written independence policy.
Who you work with
“A bailiwick is the territory you know better than anyone. Ours is a narrow one: how rare genetic disease gets diagnosed, and how programs move that number.”
Bailiwick is the practice of Mitch Bailey, most recently Associate Director of Medical Diagnostics in Global Medical Affairs at BioMarin.
Mitch led diagnosis and patient-identification strategy across skeletal dysplasia, metabolic and lysosomal storage disorders, and CNS portfolios. He built BioMarin’s first sponsored gene panel programs from launch to global scale, ran a multi-state newborn screening program, and helped cut time from first symptom to diagnosis in a childhood neurodegenerative condition from roughly 23 months to about five. Before that he established the biomedical informatics function behind Freenome’s ML-driven cancer-detection platform.
Engagements are senior-only. The person you talk to is the person who does the work.
First conversations are with Mitch directly and carry no obligation. Bring the asset, the indication, and the number that worries you.
