Family planning

Carrier results for two people

A carrier result rarely matters on its own. It matters when a partner carries a variant in the same gene. Aimosti puts two people's carrier results side by side, each from their own whole-genome file, and says where they overlap.

What a carrier result means

Most inherited conditions on our carrier panel are recessive. A person with one changed copy of the gene is a carrier and is almost always healthy. A child is affected only when they inherit a changed copy from each parent.

When both partners carry the same gene

Say both of you carry a variant in the same gene. When two carriers of the same recessive condition have a child, each pregnancy has a one-in-four chance of inheriting both variants. That is a pattern to take to a genetic counsellor before a pregnancy, not a result about any child.

Why it matters more in some families

Founder populations carry their own sets of recessive conditions. Finland has the Finnish Disease Heritage, dozens of conditions far more common here than elsewhere. Ashkenazi Jewish families have a well-known set of their own, including Tay-Sachs and Gaucher disease. Our carrier panel includes genes from both sets.

What a file can and cannot rule out

It is not a simulated child, not a probability for a real pregnancy, and not a clearance. Where neither file carries a variant in a gene, the cell says so and says whether the files examined that gene, which is a different thing from saying you are both clear.

A gVCF or aligned reads (BAM or CRAM) can prove that a gene was read. A plain VCF records only the variants it found, so for those genes the table says "not examined". A genotyping chip from 23andMe or AncestryDNA cannot drive the carrier panel at all.

How the partner view works

One of you opens Partner view in the app and invites the other by email. The other does not need an account yet: the invitation lets them create one.
The other accepts from inside their own account. Nothing is shared before that, and accepting does not have to wait for their file.
Each of you adds a whole-genome file of your own. The table fills in once both are analysed, and whoever was waiting gets an email.
You both see the same page: a count of the genes where either of you carries a variant, what each one means for the two of you, and the whole panel side by side. Either of you can withdraw it at any time, and it disappears for both.

The view shows only the carrier results, never the rest of either report. A one-page summary of the pair, with every variant and its ClinVar status, is there to print or save for a genetic counsellor.

A sample couple

Built from our made-up demo genome. Partner B is the same genome without its ATP7B change, so the table shows one shared gene and one that only partner A carries.

1 gene where both sample partners carry a variant
1 gene where one sample partner carries a variant
54 genes where neither file shows one

Genes where a sample partner carries a variant 2

CFTR · Cystic fibrosis

Sample partner A: Carrier: one copy · 7:117559590 CTT>C · Pathogenic · reviewed by expert panel
Sample partner B: Carrier: one copy · 7:117559590 CTT>C · Pathogenic · reviewed by expert panel

Both sample partners carry a variant in CFTR. When two carriers of the same recessive condition have a child, each pregnancy has a one-in-four chance of inheriting both variants. That is a pattern to take to a genetic counsellor before a pregnancy, not a result about any child.

ATP7B · Wilson disease

Sample partner A: Carrier: one copy · 13:51932737 G>A · Pathogenic · reviewed by expert panel
Sample partner B: Examined, none found

One sample partner carries a variant in ATP7B. The other file covered ATP7B and found none of the variants this panel reports, which makes it less likely that both sample partners carry, without ruling it out: the panel reports only variants already classed as disease-causing, and a clinical test reads more of the gene. A genetic counsellor can say how much chance is left.

The whole panel, side by side 56 genes

Gene	Condition	Sample partner A	Sample partner B
CFTR	Cystic fibrosis	Carrier: one copy 7:117559590 CTT>C · Pathogenic · reviewed by expert panel · heterozygous	Carrier: one copy 7:117559590 CTT>C · Pathogenic · reviewed by expert panel · heterozygous
ATP7B	Wilson disease	Carrier: one copy 13:51932737 G>A · Pathogenic · reviewed by expert panel · heterozygous	Examined, none found
ACADM	MCAD deficiency	Examined, none found	Examined, none found
AGA	Aspartylglucosaminuria (AGU)	Examined, none found	Examined, none found
AIRE	APECED (autoimmune polyendocrinopathy)	Examined, none found	Examined, none found
ASPA	Canavan disease	Examined, none found	Examined, none found
ASS1	Citrullinemia type I	Examined, none found	Examined, none found
BCKDHB	Maple syrup urine disease	Examined, none found	Examined, none found
BCS1L	GRACILE syndrome	Examined, none found	Examined, none found
BLM	Bloom syndrome	Examined, none found	Examined, none found
BTD	Biotinidase deficiency	Examined, none found	Examined, none found
CLN5	CLN5 disease	Examined, none found	Examined, none found
CLN8	Northern epilepsy (CLN8)	Examined, none found	Examined, none found
CLRN1	Usher syndrome type 3A	Examined, none found	Examined, none found
CTNS	Cystinosis	Examined, none found	Examined, none found
CUBN	Imerslund-Gräsbeck syndrome (B12 malabsorption)	Examined, none found	Examined, none found
CYP27A1	Cerebrotendinous xanthomatosis (CTX)	Examined, none found	Examined, none found
DHCR7	Smith-Lemli-Opitz syndrome	Examined, none found	Examined, none found
ELP1	Familial dysautonomia	Examined, none found	Examined, none found
FAH	Tyrosinemia type I	Examined, none found	Examined, none found
FANCC	Fanconi anemia group C	Examined, none found	Examined, none found
G6PC1	Glycogen storage disease type Ia	Examined, none found	Examined, none found
G6PD	G6PD deficiency	Examined, none found	Examined, none found
GAA	Pompe disease	No variant found; not examined	No variant found; not examined
GALC	Krabbe disease	Examined, none found	Examined, none found
GALT	Galactosemia	Examined, none found	Examined, none found
GBA1	Gaucher disease	No variant found; not examined	No variant found; not examined
GJB2	Non-syndromic hearing loss (DFNB1)	Examined, none found	Examined, none found
GLE1	Lethal congenital contracture syndrome 1 (LCCS1)	Examined, none found	Examined, none found
HBB	Sickle cell & β-thalassemia	Examined, none found	Examined, none found
HEXA	Tay-Sachs disease	Examined, none found	Examined, none found
HYLS1	Hydrolethalus syndrome (HLS)	Examined, none found	Examined, none found
IDUA	Mucopolysaccharidosis type I	Examined, none found	Examined, none found
KERA	Cornea plana 2 (CNA2)	Examined, none found	Examined, none found
LCT	Congenital lactase deficiency	Examined, none found	Examined, none found
MCOLN1	Mucolipidosis IV	Examined, none found	Examined, none found
MKS1	Meckel syndrome, Finnish type (MKS1)	Examined, none found	Examined, none found
NPHS1	Congenital nephrosis, Finnish type (CNF)	Examined, none found	Examined, none found
OAT	Gyrate atrophy of the choroid and retina	Examined, none found	Examined, none found
PAH	Phenylketonuria (PKU)	Examined, none found	Examined, none found
POMGNT1	Muscle-eye-brain disease (MEB)	Examined, none found	Examined, none found
PPT1	Infantile neuronal ceroid lipofuscinosis (CLN1)	Examined, none found	Examined, none found
RECQL4	RAPADILINO syndrome	Examined, none found	Examined, none found
RMRP	Cartilage-hair hypoplasia (CHH)	Examined, none found	Examined, none found
SLC17A5	Salla disease	Examined, none found	Examined, none found
SLC26A2	Diastrophic dysplasia (DTD)	Examined, none found	Examined, none found
SLC26A3	Congenital chloride diarrhea (CCD)	Examined, none found	Examined, none found
SLC26A4	Pendred syndrome / hearing-loss	Examined, none found	Examined, none found
SLC7A7	Lysinuric protein intolerance (LPI)	Examined, none found	Examined, none found
SMPD1	Niemann-Pick disease type A/B	Examined, none found	Examined, none found
TRIM37	Mulibrey nanism	Examined, none found	Examined, none found
TWNK	Infantile-onset spinocerebellar ataxia (IOSCA)	Examined, none found	Examined, none found
USH2A	Usher syndrome type 2A	Examined, none found	Examined, none found
VPS13B	Cohen syndrome	Examined, none found	Examined, none found
XXYLT1	XXYLT1 retinal dystrophy	Examined, none found	Examined, none found
ZNHIT3	PEHO syndrome	Examined, none found	Examined, none found

"No variant found; not examined" means the file recorded no variant there and could not prove the position was read. "Examined, none found" appears only where that person's own file (a gVCF or aligned reads) covered the gene well enough to say so. Neither is a clearance for the pair.

What the files could show

52 of the 54 genes where neither file shows a variant were read in both files. For the other 2, at least one file could not show the gene was read, so the table cannot say whether it was examined.

This panel screens 56 genes, weighted towards Finnish Disease Heritage and other founder conditions. Clinical expanded carrier screening usually covers well over a hundred genes, so a condition missing from this list is not covered here at all.

This page shows two adults' carrier status, side by side, from files each of you uploaded. It is information about the two of you, not a statement about any pregnancy or child. It cannot rule a condition out: a variant-only file records what was called, not what was examined, and this panel screens a fixed list of genes, not every recessive condition. Clinical carrier screening and genetic counselling exist for exactly this question, and a result here is not a basis for any reproductive decision.

Each person needs their own whole-genome report. See prices or check your file first, free and in your browser.