Boards
One board per domain, one row per cohort. Five launch with the founding cohort, five are forming, and fifteen have a reviewed map or roster and are waiting for a lead. Each cohort has a page, a channel and a PDF for members.
- Launch
- Forming
- Seeking a lead
| Cohort | Who it covers | Status | Slack |
|---|---|---|---|
| Connective tissue Is this hEDS or HSD, or a genetic connective tissue disorder that changes management? | hEDS, HSD, Marfan, Loeys-Dietz and heritable aortic disease, and the patients being sorted among them | Launch | #cohort-connective-tissue |
| Nonspecific symptoms What is the unifying diagnosis, if there is one, behind fatigue, pain, dysautonomia and cognitive symptoms? | Fatigue, pain, dysautonomia or cognitive symptoms with no unifying diagnosis after a standard workup | Forming | #cohort-nonspecific-symptoms |
| Specific signs This one objective finding points somewhere. Where? | An objective finding that points somewhere: an odd lab, an imaging finding, a dysmorphic feature, a family pattern with uninformative testing | Seeking a lead | #cohort-specific-signs |
| Progressive monogenic disease The diagnosis is known and the disease progresses. What does good care look like around the specialist's plan? | Diagnosed, progressive, multiorgan monogenic disease where the plan is coordination, surveillance and quality of life | Seeking a lead | #cohort-progressive-monogenic |
| Management and surveillance The diagnosis is established. Who is watching which organ, and when? | NF1, Marfan after diagnosis, Turner, 22q11.2 and similar in adults: lifelong multi-organ surveillance | Seeking a lead | #cohort-management-surveillance |
| Cohort | Who it covers | Status | Slack |
|---|---|---|---|
| Lysosomal storage disorders Which adult with an unexplained cardiomyopathy, neuropathy, splenomegaly or myopathy has a lysosomal disease? | Pompe, Gaucher, Fabry, ASMD, attenuated MPS, alpha-mannosidosis: ERT, substrate reduction and chaperones | Seeking a lead | #cohort-lysosomal-storage |
| Hypophosphatasia Why is this adult's alkaline phosphatase low, and does it explain the fractures, the dental history or the pain? | HPP and the related bone and mineral disorders, including X-linked hypophosphatemia | Seeking a lead | #cohort-hypophosphatasia |
| Transthyretin amyloidosis Is this heart failure, neuropathy or carpal tunnel the first sign of amyloid, and is it hereditary? | hATTR, with HoFH, familial chylomicronemia and lipodystrophy on the same infusion and specialty pathway | Forming | #cohort-transthyretin-amyloidosis |
| Inherited metabolic disease Which adult with an unexplained encephalopathy, liver disease, psychiatric picture or recurrent crisis has a treatable inborn error? | PKU, urea cycle disorders, homocystinuria, CTX, acute hepatic porphyria, Wilson, AATD, hemochromatosis | Seeking a lead | #cohort-inherited-metabolic |
| Neurogenetic Is there a treatable diagnosis hiding in a progressive neurologic picture? | Adult SMA, Friedreich ataxia, primary mitochondrial disease, Huntington, and the treatable diagnosis in a progressive picture | Launch | #cohort-neurogenetic |
| Cohort | Who it covers | Status | Slack |
|---|---|---|---|
| Hereditary cancer risk Who in this family needs testing, and what surveillance follows? | Lynch, BRCA1/2, PALB2 and other cancer syndromes, plus cascade testing | Launch | #cohort-hereditary-cancer |
| Comprehensive genetic risk This healthy adult had a proactive exome or genome. What is actionable, and what is not? | Proactive exome or genome in healthy adults: ACMG secondary findings, FH, inherited cardiomyopathy and arrhythmia | Forming | #cohort-comprehensive-genetic-risk |
| Polygenic risk score Does this score change what we would do for this patient? | PRS for coronary disease, breast and prostate cancer and type 2 diabetes, and how they stack with monogenic results and family history | Seeking a lead | #cohort-polygenic-risk |
| Pharmacogenomic profile When is a pharmacogenomic result worth ordering, and how does it reach the prescription? | Actionable drug-gene results applied to current and future prescribing | Seeking a lead | #cohort-pharmacogenomics |
| Preconception carrier screening What should this couple be offered, and what do we do with a positive? | Expanded carrier screening, preconception counseling and family planning | Seeking a lead | #cohort-carrier-screening |
| Cohort | Who it covers | Status | Slack |
|---|---|---|---|
| Advanced imaging Which centers will run the protocol the physician asked for, read it with a subspecialist, and quote the cash price before the patient arrives? | Specialized MRI protocols, cardiac MRI, nuclear and vascular imaging | Launch | #cohort-advanced-imaging |
| Procedural studies Who will do the physiologic study the care map calls for, with the measurement the anchor physician actually asked for, read by someone who knows what the question was, at a price the patient saw in advance? | Echo, CPET, electrophysiology, PFTs, EMG and NCS, autonomic and tilt testing, skin and muscle biopsy | Forming | #cohort-procedural-studies |
| Esoteric assays Which lab runs the send-out test, at a published cash price, and how fast does the result come back? | Biochemical genetics, specialty immunology, endocrine and autoimmune testing, sequencing and reanalysis labs | Seeking a lead | #cohort-esoteric-assays |
| Clinical expertise Who will take a hard case from an anchor physician, on a cash basis, and answer the question asked? | Cash-basis genetics and subspecialty consults: variant interpretation, second opinions, academics who'll take a case from an anchor | Seeking a lead | #cohort-clinical-expertise |
| Empiric therapies Where does this treatment actually come from, and how does the patient get it? | Infusion centers, compounding and specialty pharmacy, expanded access, trial enrollment, off-label and compassionate use | Seeking a lead | #cohort-empiric-therapies |
| Cohort | Who it covers | Status | Slack |
|---|---|---|---|
| Primary care Who will own this patient's plan for three years? | DPC and concierge physicians and APPs who anchor a care map | Forming | #cohort-primary-care |
| Specialist Which cash-pay or hybrid specialists will see these patients, work with an anchor physician, and write back? | Cash-pay or hybrid cardiology, neurology, rheumatology, GI, endocrinology and others | Launch | #cohort-specialist |
| Therapists Which therapists know this condition, and will they report back to the anchor? | Physical, occupational, speech and pelvic floor therapists | Seeking a lead | #cohort-therapists |
| Counselor Who does the pre- and post-test counseling and the behavioral health work these maps need? | Genetic counselors, psychologists, psychiatrists and mental-health counselors | Seeking a lead | #cohort-counselor |
| Resource Who keeps the plan moving between visits: nutrition, navigation, community? | Dietitians, care navigators, patient advocates, social work, pharmacists, and the patient organizations that stay independent | Seeking a lead | #cohort-resource |
How to read a care map
Every care map fills the same seven roles across three years. The anchor is the primary care physician who owns the plan. Genetics covers diagnosis, interpretation, reanalysis and cascade testing. Specialists, diagnostics and therapies come off the rosters. Behavioral health and nutrition are on every map because every map needs them. Community means patient organizations, kept independent of the network.
Every clinical claim carries a citation. Where the citation is a guideline rather than a trial, the map says so. Where guidelines disagree, the map shows the range, not one number.
Want to lead one?
The fifteen cohorts seeking a lead each need a member to own the map: run the cohort's journal club, revise the draft, keep the roster honest. Tell us which one.