Why some conditions are more common
Many Ashkenazi Jews descend from a relatively small founding population in medieval Europe. When a community grows from a small group and mostly marries within itself, a few gene variants that one founder happened to carry can become much more common than elsewhere. Geneticists call this a founder effect. The same thing has happened in Finland, among the Amish and in French Canada.
It doesn't mean anyone is less healthy. Carriers are healthy. It means two carriers of the same condition are more likely to meet.
The Ashkenazi Jewish panel
Commonly quoted carrier frequencies among people of Ashkenazi Jewish descent:
| Condition | Carrier frequency | What it is |
|---|---|---|
| Gaucher disease (type 1) | about 1 in 15 | Enzyme disorder affecting spleen, liver, bones and blood; treatable, often mild |
| Cystic fibrosis | about 1 in 24 | Affects lungs and digestion. More |
| Tay-Sachs disease | about 1 in 25–30 | Fatal nerve disease of infancy. More |
| Familial dysautonomia | about 1 in 32 | Affects nerves that control pain, temperature and blood pressure |
| Canavan disease | about 1 in 40 | Severe brain disorder starting in infancy |
| Fanconi anemia (group C) | about 1 in 89 | Bone marrow failure and cancer risk |
| Niemann-Pick disease (type A) | about 1 in 90 | Severe enzyme disorder of infancy |
| Bloom syndrome | about 1 in 100 | Short stature and high cancer risk |
| Mucolipidosis type IV | about 1 in 127 | Affects development and vision |
Many panels add more, such as glycogen storage disease type 1a, maple syrup urine disease, Usher syndrome and others. Spinal muscular atrophy and hemoglobin disorders are recommended for everyone regardless of ancestry.
What the guidelines say
- ACOG (American College of Obstetricians and Gynecologists) recommends offering screening for cystic fibrosis, spinal muscular atrophy and hemoglobin disorders to everyone, plus Tay-Sachs, Canavan disease, familial dysautonomia and cystic fibrosis screening for people of Ashkenazi Jewish descent. Ethnic-specific, panethnic and expanded screening are all acceptable approaches.
- ACMG (American College of Medical Genetics and Genomics) recommended in 2021 that all pregnant people and those planning pregnancy be offered a broad panel of 113 genes, regardless of ancestry.
- Both partners should be tested if one is a carrier. Ideally, test before pregnancy.
How Dor Yeshorim works
Dor Yeshorim was founded in Brooklyn in 1983 by Rabbi Josef Ekstein, who lost four children to Tay-Sachs. It's used mainly in Orthodox communities, where it's built into the matchmaking (shidduch) process.
- Young people give a blood sample, often in high school, and receive an ID number. They don't get their own results.
- When a match is proposed, both sides call with their ID numbers.
- Dor Yeshorim answers only "compatible" or "not compatible." If both carry the same condition, they're advised not to proceed, and they aren't told which condition.
The model avoids stigma around being a carrier, and it has been very effective at preventing affected births in the communities that use it. It also has critics: some medical ethicists object to withholding people's own results, and its panel doesn't cover everything a modern expanded screen does.
Sephardi, Mizrahi and interfaith couples
- Sephardi and Mizrahi Jewish communities have their own, different set of more common conditions, such as beta-thalassemia and familial Mediterranean fever, depending on the community's country of origin. An Ashkenazi panel can miss them.
- Interfaith or mixed-heritage couples: test both partners. The partner without Jewish ancestry should have broad testing (sequencing, not a short list of Ashkenazi variants), because their carrier variants are likely to be different ones.
- Don't know your ancestry? That's common, and it's one reason guidelines now favor the same broad panel for everyone.
Panel or expanded screen?
A Jewish panel tests a short list of conditions known to be common in Ashkenazi families. An expanded carrier screen covers those plus hundreds more, for any ancestry, usually at a similar price. For most couples today, the expanded screen is the better choice. Genetic testing before pregnancy: the options.
General information, not medical advice. Talk to a genetic counselor about which panel suits your family.
Sources
- ACOG Committee Opinion 691: Carrier screening for genetic conditions (2017)
- ACOG Committee Opinion 690: Carrier screening in the age of genomic medicine (2017)
- Gregg AR et al. Screening for autosomal recessive and X-linked conditions: ACMG practice resource. Genetics in Medicine (2021)
- MedlinePlus Genetics: Tay-Sachs disease (U.S. National Library of Medicine)
- Lew R, Burnett L, Proos A. Tay-Sachs disease preconception screening in Australia. J Community Genet 2(4):201–209 (2011)
- Tablet: Tinder for Tay-Sachs (on Dor Yeshorim)
- Nautilus: Blessed by science: how genetic medicine changed a strictly religious community