Glossary

Defined once, linked from the first place each term shows up on a page.

ACMG secondary findings

The ACMG's list of actionable genes laboratories report from exome or genome sequencing even when they weren't the reason for testing, if the patient opts in.

Anchor physician

The primary care physician who owns a patient's plan across all three years of a care map: orders, refers, reads what comes back, and keeps the thread.

Beighton score

A nine-point exam for generalized joint hypermobility. Part of the 2017 hEDS criteria, with age-adjusted cutoffs.

Care map

A cohort's three-year plan, seven roles across Year 1 Establish, Year 2 Treat and Year 3 Sustain, with a citation on every clinical line. Care maps recommend; they never require.

Carrier screening

Testing a person or couple, ideally before pregnancy, for recessive or X-linked conditions they could pass on.

Cascade testing

Offering targeted testing for a known familial variant to blood relatives, starting with first-degree relatives, once someone in the family has a pathogenic result.

Cohort

One cell of the 5×5 grid: a group of patients (domains 1 to 3) or of providers (domains 4 and 5), with a page, a Slack channel and, once running, a lead.

De-identified

Stripped of anything that could identify a patient: names, dates, places, record numbers, photos, rare details. Every case we discuss is de-identified before it's posted or presented.

Diagnostic yield

The share of tested patients who get a molecular diagnosis from a given test in a given population.

Domain

One row of the grid. Complex disease, treatable monogenic disease and population genetics are patients; diagnostic support and private practice are providers.

ERT

Enzyme replacement therapy: infused recombinant enzyme for lysosomal storage disorders such as Pompe, Gaucher and Fabry.

GeneReviews

Expert-authored, peer-reviewed disease chapters on the NCBI Bookshelf. Our first stop for a single-gene condition.

Penetrance

The share of people with a pathogenic variant who develop the condition. Reduced penetrance is why a carrier can be well and a family history can look thin.

PGx

Pharmacogenomics: inherited variation that changes how a drug is processed or tolerated, applied to choosing a drug or dose.

Phenocopy

A presentation that looks like a genetic condition but has a different cause, genetic or not.

Pretest probability

How likely a diagnosis is before the test, from phenotype, family history and prevalence. It decides which test to send and how to read the result.

PRS

Polygenic risk score: many common variants, each with a small effect, summed into one number. It shifts risk; it doesn't diagnose, and it performs best in the ancestries it was built in.

Reanalysis

Re-reading existing exome or genome data against current gene-disease knowledge and variant classifications. Often worth doing every two to three years in an undiagnosed patient.

Roster

A domain 4 or 5 cohort's list of vetted clinicians, labs or centers, with the criteria they meet and what an entry shows. Nobody is listed without their consent.

VUS

Variant of uncertain significance. Not enough evidence to call it pathogenic or benign. Not a diagnosis, and not a reason to change management on its own; it gets reclassified as evidence comes in.