Elena Ruiz · OwnGenome

Of everything this genome was screened for, one finding should go to a doctor: a change in BRCA2 that raises the lifetime risk of breast and ovarian cancer. One medicine result bears on it, because Elena breaks down tamoxifen more slowly than most. She carries cystic fibrosis, and so does Marc, which makes it 1 in 4 for each pregnancy; Lía is a carrier and not affected. Her FMR1 repeat sits just above the usual range. The data is good enough to read.

Take to a doctor1Breast and ovarian cancer risk Prescriber1Tamoxifen, codeine Worth a look1FMR1 repeat, 48 Family planning2Cystic fibrosis, haemochromatosis Information14Origins, traits, scores

Data quality32.4× depth·identity confirmed·no contamination·11 genes hard to read

Figure 1 · Where the findings sit

Each mark is one finding, on its chromosome. Shape and colour give the level, as in the row above. APOE is not drawn until you choose to see it (section 7).

To act on

Is there anything to take to a doctor?

Take to a doctor

Hereditary breast and ovarian cancer

BRCA2 · c.5946del · p.Ser1982ArgfsTer22 · one copy

One copy of BRCA2 carries a change that stops the protein early. People with such a change have a higher lifetime risk of breast and ovarian cancer, and to a smaller degree prostate and pancreatic cancer in male relatives. It is not a diagnosis of cancer.

What to do

Bring this to a doctor or a genetic counsellor.
Confirm it with a clinical test in a certified laboratory.
Ask about screening and prevention; these start earlier than the general programme.
Parents, brothers, sisters and children each have a 1 in 2 chance of carrying it. Elena's mother Carmen has no genome here.

Did Lía inherit it? The family analysis answers this. It is an adult-onset finding about a child, so it stays closed until you open it.

Read the full evidence: classification, reads, family →

Medicines

Which medicines should a prescriber know about?

Tell your prescriber

Elena breaks down some medicines more slowly than most people: she is an intermediate metaboliser for CYP2D6, a liver enzyme that activates tamoxifen and codeine.

Tamoxifen	Consider an aromatase inhibitor after menopause, or a higher tamoxifen dose (40 mg a day). Avoid strong CYP2D6 inhibitors. Relevant to the BRCA2 finding.	Optional
Codeine	Use the label dose. If it does not help, consider an opioid other than tramadol.	Moderate
Ondansetron	No change for an intermediate metaboliser.	No action

Reason for every row: CYP2D6 *1/*4, activity score 1.0, two callers agree. Eleven other genes were called with no drug change; two could not be called. All 19 genes

For your family

What could I pass on to a child?

A carrier has one changed copy of a gene where it takes two to cause the condition. Carriers are not affected; it matters when a partner carries the same gene.

Family planning ● newer ClinVar

Cystic fibrosis carrier

CFTR p.Phe508del, the commonest cystic fibrosis change. Marc carries one too.

1 in 4 per pregnancy affected
Lía: carrier, not affected

The couple screen →

Family planning

Haemochromatosis carrier

HFE p.Cys282Tyr, one copy. Iron overload is rare with one copy. Marc carries no HFE change the screen sees.

Not a secondary finding: HFE is reported only with two C282Y copies.

Worth a look

What deserves a conversation, but is not a diagnosis?

Worth a look

Fragile X repeat in the intermediate range

One copy of FMR1 has 48 CGG repeats: more than usual, below a premutation. It does not cause disease, but it can grow by a few repeats when passed on. Lía's copy has 49. Worth a word with a genetic counsellor before a future pregnancy.

Figure 2 · FMR1 CGG repeats, both copies

Figure 3 · Every repeat locus checked

Dots are the two copies; the shaded part is the range most people carry; the tick is where expansion begins for that gene. Scales differ per row.

Can I trust this?

This is about the data, not about Elena.

Depth32.4×about 30× was paid for

At 10× or more98.1%of the genome

Other DNA0.4%below the 3% line

Sex checkXXmatches declared

Genes this genome reads poorly

In these genes a "no finding" says nothing. 11 genes fall below 90% readable; 4 are not on the reference at all.

Not on this reference: GSTT1, HLA-DRB3, HLA-DRB4, KIR2DL2. All 11 genes

Origins

Where do my ancestors come from?

Elena's genome is most similar to Southern European reference groups, closest to Iberian samples. This measures similarity to reference people; it is not a nationality.

Figure 4 · Regional similarity

Continental: Europe 92% (90–94), Middle East and North Africa 6% (4–8), sub-Saharan Africa 1%, other 1%.

Figure 5 · Chromosome painting, both copies of each chromosome

Each stretch is coloured by the reference group it resembles most. Colours as in figure 4.

Maternal lineH1c3commonest branch in Western Europe; Lía shares it

Neanderthal1.9%498 stretches; about 2% is typical outside Africa

Long runs of sameness0 Mbno sign the parents are related

Traits and scores

What do studies say about my traits and risk scores?

A percentile places Elena among 100 reference people of similar (European) ancestry. It is not a probability, and scores of different conditions are not comparable.

Figure 6 · Polygenic scores, ancestry-matched (EUR, 98.7% of variants found)

050100

Traits

Trait	Reading	Gene	Genotype
Lactase persistence	likely digests milk as an adult	MCM6/LCT	C/T
Caffeine metabolism	fast	CYP1A2	A/A
Eye colour	likely brown	HERC2	A/A
Bitter taste (PTC)	taster	TAS2R38	PAV/AVI
Earwax	wet	ABCC11	C/C
Alcohol flush	unlikely	ALDH2	G/G

Blood groupA1, RhD+one RhD-deleted copy, passed to Lía

Telomere content512relative; no normal range exists

Alzheimer's (APOE)Closedopens only on purpose

APOE relates to the risk of late-onset Alzheimer's disease. Many people choose not to know. Nothing about prevention changes on APOE alone.

Assessed, no finding

No finding in what these steps assessed. Each line says what it does not see.

Structural changesNo class 4 or 5 deletion or duplication in a disease gene, of 6,204 called.Short reads miss many insertions and inversions.
MitochondriaNo disease-listed change. One common D-loop variant at 18%.Blood under-represents other tissues.
Large mosaic changesNone found; loss of X not seen above 8% of cells.Below about 5% of cells, invisible.
Viral DNANo integrated HHV-6. EBV reads present, as in most adults.Not a test for infection.
Secondary findingsBRCA2 only, shown in section 1. No other of the 84 genes.One hit in a two-hit gene is not reported here.
Symptom rankingNot run: no symptoms were given.

What this report cannot see

For every person on this server.

Changes ClinVar does not list, unless another step ranks them
Genes short reads cannot place (section 5)
Long repeat expansions beyond read length: only a lower bound
Methylation and imprinting
Changes in under about 10% of blood cells
Balanced rearrangements with breakpoints in repeats

Sources and files

Source	Used	Newest	Would change
ClinVar	2026-10-02	2026-11-06	carrier list, couple screen, clinical screen; not BRCA2
Ensembl VEP	115	same	nothing
PharmCAT	3.4.0	same	nothing
Cancer bundle	2026-06-01	same	nothing
PGS Catalog	2026-09	same	nothing

Raw data (23andMe format)Cancer report Medicines report Quality report Genome viewer