GDGrade^™ is the standard that makes every genetic test clinical grade.

What is GDGrade™?

Think of GDGrade™ as a quality checklist for genetic tests. It makes sure the best standards are followed when your test is chosen, done, read and explained to you. Every Genetidoc test follows it, from the day your sample arrives to the day you understand your report.

In short: one set of high standards, followed for every test, every time.

Why do we need it?

A genetic test reads your DNA to look for changes that can cause health problems. But today, no single rule book tells labs how this must be done. Two labs can offer a test with the same name and still do it in very different ways. Some use weaker chemicals, check fewer genes or skip steps to save money. You cannot see this on the report. Yet it can change your answer.

We pick the test that suits you

We look at your health and your family history. Then we choose the test with the best chance of an answer for a fair cost.

• We pick the test that suits you. Not the biggest or most costly one.
• We add extra tests when your case needs them, so the full picture is covered.

We do the test fully

Two labs can run the same test very differently. Here is how we do it.

• We use full-strength chemicals and read your DNA closely, so small changes are not missed.
• We check every gene that matters for your case, using the latest medical guidelines.

A doctor signs your report

Your result is not just numbers. A doctor reads it and explains it to you.

• A doctor reads your result and signs your report. It is never left to a technician alone.
• A counsellor explains your result in simple words. You can talk to a doctor whenever you need to.

A plan you can actually use

A genetic result is only useful when it leads to action. With GDGrade™, you get a personalised management plan along with your report. It tells you what your result means for you, what to do next, which checks or treatments to consider, and whether your family members may need testing.

Your plan is written in simple words, so you and your doctor know exactly what to do.

What does 16% mean?

In our own study, we re-checked 100 earlier cases across many kinds of tests: exome, microarray, cancer tests and more. About 16 out of every 100 gave a better or corrected answer. This is what a careful test can do.

What is GDGrade™?

GDGrade™ is a set of high-quality standards covering every stage of a genetic test: prescribing (test selection), wet-lab execution, bioinformatics, variant interpretation, reporting and counselling. It applies across NGS panels and exomes, Sanger sequencing, MLPA, karyotyping and chromosomal microarray, with parameters defined for each test type, so the highest level of quality is met at each step.

Why a defined standard?

No universal standard defines how a test of a given name must be performed. Reagent quality, sequencing depth, target-region coverage, panel content, karyotype or array resolution and the qualifications of the reviewing professional all vary between laboratories, and none of them is visible on the final report. A negative result is only as informative as the test behind it, so these parameters directly affect sensitivity and diagnostic yield.

Test selection and wet lab

• Test selection. Indication-led choice of the test with the best yield for its cost. No escalation to larger panels without a clinical reason. Oncology panels are matched to the tumour type.
• Wet lab. Full-strength reagents, used within instrument capacity. Minimum 100x depth on target regions, with typically around 10 GB of data per sample compared with about 2 to 3 GB in many standard runs.
• Coverage and panels. Coverage of all relevant genes is rechecked for each test. Panels are updated against current guidelines instead of reusing older gene lists.

Cytogenetics and complementary assays

• Cytogenetics. Karyotype resolution is set by the clinical question, with high-resolution banding when needed. For CMA, probe density across the target regions is verified before use.
• Complementary assays. When one method is not enough, the rest of the work-up for the phenotype is added, such as MLPA, repeat-expansion testing (for example C9orf72) or Gilbert syndrome testing.

Interpretation, reporting and counselling

• Interpretation. Variants are checked against an in-house database and large international and Indian population and variant databases, and classified using ACMG/AMP guidance.
• Reporting. Every report is reviewed and signed by a clinical geneticist and includes actionability advice. Genetic counselling comes with every test, and doctor consultation is available when needed.

Clinical actionability report

Every report includes a clinical actionability report: the clinical significance of each finding, recommended management and surveillance, treatment or drug implications where relevant, and family cascade testing advice, so that the ordering physician can act on the result with confidence.

Findings are tied to guidelines and to the patient's phenotype, so they are used in management and not left unreviewed.

Yield from re-analysis

Yield data. In an internal study of 100 cases (50 exome cases, some prenatal, and 50 other tests: MLPA, Sanger, CMA, and germline and somatic cancer testing), re-analysis under GDGrade™ parameters changed the result in about 16%. Changes included missed likely pathogenic variants, variants of uncertain significance reclassified after family screening, false-positive calls excluded, actionability corrected in somatic reports and a copy-number change missed on array. Full details will be in our white paper.