Clinical expertise
The anchor question: who looks at the case when the question goes past what the care map can answer, and writes back something the anchor can act on? Most maps reach that point: a VUS that might matter, a clean panel in a patient who still looks syndromic, a therapy decision that turns on genotype. This roster is the geneticists and subspecialists, academic experts included, who take those cases from an anchor physician on a cash, e-consult or case-review basis.
What the care maps need
| Consult | Serves | What the consultant brings |
|---|---|---|
| Variant interpretation and second reads | Hereditary cancer risk, comprehensive genetic risk, preconception carrier screening, specific signs, connective tissue, transthyretin amyloidosis | Classification on the five-tier ACMG-AMP scale with the evidence written out.1 A second read earns its fee when a classification drives management: when nine laboratories piloted the same criteria on 99 variants, interlaboratory concordance was 34% at first and 71% after consensus discussion.2 |
| VUS follow-up and reclassification | Hereditary cancer risk, comprehensive genetic risk | Someone who tracks the VUS and calls the anchor when it moves. Most movement is downward: at one large laboratory, 7.7% of unique VUS were reclassified, and 91.2% of those went to benign or likely benign.3 That supports the comprehensive genetic risk map's rule of not acting on a VUS. |
| Clinical genetics consult for the patient who doesn't fit | Nonspecific symptoms, specific signs, connective tissue, neurogenetic, management and surveillance | A structured, multidisciplinary evaluation of patients who had already been thoroughly worked up reached a diagnosis in 35% (132 of 382), three quarters of them by exome or genome sequencing.4 The consultant reviews the whole record before the visit and says what would close the search. |
| Reanalysis and retesting decisions | Neurogenetic, connective tissue, nonspecific symptoms | The maps set reanalysis at 24 to 36 months. The consultant chooses between reanalyzing existing data and ordering a new test, for example a genome after a non-diagnostic exome.5 |
| Biochemical genetics and metabolic bone consult | Neurogenetic, inherited metabolic disease, lysosomal storage disorders, hypophosphatasia | Reads the biochemical screen against the clinical picture, and holds the metabolic treatment plan with the dietitian on the resource roster. The inherited metabolic map asks for continuous adult metabolic follow-up, including for patients who left pediatric care. |
| Pharmacogenomics consult | Pharmacogenomic profile | A clinical pharmacist or pharmacogenomics consultant who turns the phenotype list into prescribing advice the anchor can use, as the pharmacogenomic map asks. |
| Therapy eligibility by genotype and phenotype | Neurogenetic, transthyretin amyloidosis, lysosomal storage disorders | The neurogenetic map confirms SMA therapy eligibility by SMN2 copy number; the ATTR map chooses a stabilizer or a silencer by phenotype. A consultant who prescribes these therapies reviews the case before the anchor commits. |
| Subspecialty second opinion | Every patient cohort, including management and surveillance | Amyloid cardiology, neuromuscular medicine, heritable aortic disease, mitochondrial medicine: one written opinion on the record, separate from the ongoing care the specialist roster provides. |
Vetting criteria
Every entry is checked against these before listing and reviewed yearly.
- Board-certified in the field consulted: medical genetics and genomics, biochemical genetics, or the relevant subspecialty.
- Independent clinicians founded or co-founded their practice, and more than half of its revenue comes from patients rather than payers. Academic experts qualify through a published route for an anchor's case: a cash consult, an e-consult or a case-review fee.
- Writes back to the anchor, not only to the patient: the answer to the question asked, the evidence, the next step, and what would change the answer.
- Uses the ACMG-AMP terms for variants, and says when a classification is the consultant's own rather than the laboratory's.1
- Publishes the price and turnaround for each consult format, and works inside the licensure boundary in the network's ground rules.
How the roster is built
- Year one: a clinical geneticist and a biochemical geneticist who take case reviews from anchors at a published fee. A one-page request template: the question, the record, the return date.
- Year two: subspecialty experts matched to the patient cohorts, including academics who take a case from an anchor in amyloidosis, mitochondrial disease and heritable aortic disease. A quarterly case conference with the anchors.
- Year three: track turnaround, whether the reply answered the question, and how often a consult changed the plan. Prune and add.
Roster
No entries yet. The convener drafted this roster and it's looking for a member to lead it. Members propose consultants in the cohort channel; the convener and one member check the criteria before listing, and nobody is listed without their consent. Each entry will show the clinician, board certification, practice or institution, the consults they take, the format (e-consult, video or in person), price, turnaround, states licensed, and the member who vouched for them.
References
- Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30
- Amendola LM, Jarvik GP, Leo MC, et al. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016;98(6):1067-1076. doi:10.1016/j.ajhg.2016.03.024
- Mersch J, Brown N, Pirzadeh-Miller S, et al. Prevalence of variant reclassification following hereditary cancer genetic testing. JAMA. 2018;320(12):1266-1274. doi:10.1001/jama.2018.13152
- Splinter K, Adams DR, Bacino CA, et al. Effect of genetic diagnosis on patients with previously undiagnosed disease. N Engl J Med. 2018;379(22):2131-2139. doi:10.1056/NEJMoa1714458
- Deignan JL, Chung WK, Kearney HM, et al. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019;21(6):1267-1270. doi:10.1038/s41436-019-0478-1
References retrieved from PubMed on 2026-10-30. Rosters are reviewed at each yearly cycle.
Colorado Care Network. Clinical expertise. Version 2026-10-30.