The genetic-diagnostics reading desk
Plain-language explainers on hereditary-cancer testing — from swab to sequencer — sourced to NCI, ACMG, NCCN and the peer-reviewed literature. Educational only, never a substitute for a clinician or genetic counsellor.
Three rooms in the library
Everything we publish sits in one of three places. Articles explain a topic end-to-end; News tracks the registry and the field; the Glossary defines the tokens you meet along the way — gene names like <code>BRCA1</code>, variant IDs like <code>rs80357906</code>, kit codes like <code>OG-500</code>.
Long-form explainers
Step-by-step pieces on testing pathways, sample types and result interpretation — each one sourced and signposted to a clinician for personal decisions.
Read the ArticlesWhat's new in the field
Short notes on the hereditary-cancer evidence base — variant-reclassification findings, guideline updates, and the heritage of the PROMPT multiplex-testing registry.
Read the NewsTerms, defined
A reference of genetics vocabulary — VUS, penetrance, germline vs somatic, ACMG tiers — written for a careful non-specialist reader.
“The PROMPT registry was built to follow people with variants in lesser-characterised panel genes, so that patients, physicians and researchers could understand those risks more clearly. We carry that spirit forward in plain language — and we do not enrol.”
How we use real numbers
Our editorial standard is to attach a figure to its source and a range where the science is still settling. A representative slice of the data you'll meet across the Articles:
| Gene | Penetrance band | Indicative lifetime risk | Note |
|---|---|---|---|
BRCA1 | High (>50%) | ~55–72% | Penetrance to age 80 ~61% in cohort data |
BRCA2 | High (>50%) | ~45–69% | Penetrance to age 80 ~63% in cohort data |
PALB2 | High–moderate | ~35–53% | Risk rises with family history |
CHEK2 | Moderate (20–50%) | ~15–35% | ≈2-fold over population baseline |
ATM | Moderate (20–50%) | ~15–35% | ≈2-fold over population baseline |
Table 1. Indicative lifetime breast-cancer risk by germline gene, with the penetrance band each falls into. Risks are population-and-context dependent; family history shifts them. Figures are illustrative ranges from the peer-reviewed literature, not personal estimates.
From sample to readable variant
A second illustrative slice — typical collected DNA yield by sample type. Yields vary widely between individuals; these are central estimates from manufacturer and method-comparison data.
OG-500, 2 mL)110 µgavg ~110 µg; range ~15–300+ µg
lower yield; convenient, less DNA
high, consistent; venepuncture required
Sample article topics
The kinds of explainers you'll find in the library — each written to the same standard: sourced, plain-language, citation-minded, and clear about where a genetic counsellor takes over.
BRCA testing, explained
What a BRCA1/BRCA2 result does and doesn't tell you, and why family context reshapes the risk numbers.
Reading your results
The five ACMG tiers — Pathogenic, Likely Pathogenic, VUS, Likely Benign, Benign — and why a VUS is not a diagnosis.
Clinical vs direct-to-consumer
How a clinician-ordered panel differs from a mail-order kit in scope, confirmation and counselling support.
ReadSample stability & storage
Why a saliva kit holds DNA at room temperature for months, and what that means for shipping and turnaround.
ReadA taste of the Glossary
The full reference lives on the Glossary page; a few entries you'll lean on most:
- VUS
- Variant of uncertain significance — a change in
DNAwhose effect on cancer risk isn't yet established. It sits between Likely Benign and Likely Pathogenic on the ACMG scale and is not, by itself, an actionable result. - Penetrance
- The share of people carrying a variant who actually develop the associated condition — "high" (>50%) for genes like
BRCA1, "moderate" (~20–50%) for genes likeCHEK2andATM. - Germline
- A variant present in the egg or sperm and therefore in every cell, and heritable — as distinct from a somatic variant acquired in a tumour.
- Category B /
UN3373 - The transport classification for most patient diagnostic specimens, shipped under packing instruction P650 with leak-proof primary and secondary receptacles, absorbent material and a rigid outer.
- [1]ACMG / AMP 2015. Richards S et al. Standards and guidelines for the interpretation of sequence variants. Genet Med. 2015.↗
- [2]ASCO / JCO 2016. Balmaña J, Digiovanni L, Gaddam P et al. Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the PROMPT registry. J Clin Oncol. 2016.↗
- [3]NCI. BRCA gene changes: cancer risk and genetic testing fact sheet. National Cancer Institute.↗
- [4]DNA Genotek. Oragene OG-500 product and stability specifications (DNA yield and room-temperature stability).↗
Start with the foundations
New to hereditary-cancer testing? The Guides walk the whole pathway, from collection to a readable variant. For anything about your own health, please speak with a clinician or genetic counsellor.