23andMe for Jewish Genetic Testing

November 12, 2013 10:48 AM

Is 23andMe sufficient for the genetic testing my fiance and I require before getting married (Jewish genetic testing)?

My Fiance and I are both Jewish, which means that before we get married, we should get tested to find out if either of us are carriers for Jewish diseases (our rabbi even requires that we get tested).

The Jewish Federation of Metropolitan Chicago offers genetic screenings through their events that cost $180/person. At these events, you get your blood tested for the full list of Jewish genetic diseases and if you end up being a carrier, a counselor calls you to work through it with you. I think it's a great program, but it only tells you about your carrier status for those specific diseases.

For many years, I have been interested in 23andMe because it seems to provide a lot of fun and interesting information. My fiance and I would prefer to use 23andMe instead of going through the Center for Jewish Genetics, but I am wondering if it will be sufficient for us. The screening through the Jewish Federation does their testing with blood tests, but 23andMe only tests through saliva. Does that make a difference? Will the results be as accurate?

I'd love to hear thoughts and opinions from people who have used 23andMe and/or know a lot about Jewish Genetics.

Thanks!

posted by RUPure to Health & Fitness (16 answers total)

Looks like 23andMe has addressed this question.

"23andMe tests for most mutations routinely screened in the Ashkenazi Jewish population for these conditions."

I guess if I were you, I'd print that linked page off and see if your rabbi is cool with it?
posted by showbiz_liz at 10:51 AM on November 12, 2013

Best answer: 23andMe member here: here's what they test for vis a vis "inherited conditions". I STRONGLY recommend you get testing via the JFMC OR a genetic counselor, though. Anecdata: I found out about my BRCA1 mutation AT THE FOOD COURT AT THE MALL. It was not a good way to find out, not at all. Memail me if you'd like to discuss the wild and not-so-wonderful world of "founder mutations".

======================
BRCA Cancer Mutations (Selected)
Phenylketonuria
Familial Dysautonomia
Canavan Disease
Hemochromatosis (HFE-related)
Familial Hyperinsulinism (ABCC8-related)
Primary Hyperoxaluria Type 2 (PH2)
Sjögren-Larsson Syndrome
Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1)
Torsion Dystonia
Autosomal Recessive Polycystic Kidney Disease
TTR-Related Cardiac Amyloidosis
Mucolipidosis IV
Limb-girdle Muscular Dystrophy
Leigh Syndrome, French Canadian Type (LSFC)
Alpha-1 Antitrypsin Deficiency
Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)
DPD Deficiency
Dihydrolipoamide Dehydrogenase Deficiency
Neuronal Ceroid Lipofuscinosis (PPT1-related)
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Glycogen Storage Disease Type 1a
Glycogen Storage Disease Type 1b
Gaucher Disease
ARSACS
G6PD Deficiency
Cystic Fibrosis
Factor XI Deficiency
Zellweger Syndrome Spectrum
Nijmegen Breakage Syndrome
D-Bifunctional Protein Deficiency
Usher Syndrome Type I (PCDH15-related)
LAMB3-related Junctional Epidermolysis Bullosa
Familial Mediterranean Fever
Usher Syndrome Type III
TTR-Related Familial Amyloid Polyneuropathy
Pendred Syndrome
Tyrosinemia Type I
Hereditary Fructose Intolerance
Familial Hypercholesterolemia Type B
Hypertrophic Cardiomyopathy (MYBPC3 25bp-deletion)
Connexin 26-Related Sensorineural Hearing Loss
Beta Thalassemia
Sickle Cell Anemia & Malaria Resistance
Niemann-Pick Disease Type A
Fanconi Anemia (FANCC-related)
Bloom's Syndrome
Salla Disease
GRACILE Syndrome
Maple Syrup Urine Disease Type 1B
Tay-Sachs Disease
Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN)
Neuronal Ceroid Lipofuscinosis (CLN5-related)
posted by julthumbscrew at 10:53 AM on November 12, 2013 [3 favorites]

If you are both Ashkenazi and planning on having kids, I really wouldn't fuck around with this in your shoes. 23andMe isn't a service meant for what you need; it's an means of entertainment compared with actual genetic counseling.
posted by griphus at 10:56 AM on November 12, 2013 [11 favorites]

Oh, also: the results are accurate no matter what the type of testing. 23AndMe does provide lots of other info that you might find interesting (I personally didn't). But please, I beg you: have your results explained to you by a geneticist. Finding out your DNA is jacked up is a situation that is fraught with all SORTS of thorny complications and huge emotions. In my case - and I consider myself ABSURDLY lucky to have the minor mutation that I do! - it took a number of doctor's appointments and flowcharts and tests and crap for me to understand the full implications. If your potential offspring are involved, DON'T go the DIY-interpretation route. (By the by, if you do go with 23AndMe and they DO find something and decide to seek medical counsel, the doc won't take their word for the results, either - you'll have to get retested.)
posted by julthumbscrew at 11:00 AM on November 12, 2013

Also, their TOS explicitly states you shouldn't use their results in place of genetic counseling:

You should not change your health behaviors solely on the basis of information from 23andMe. Make sure to discuss your Genetic Information with a physician or other health care provider before you act upon the Genetic Information resulting from 23andMe Services.

posted by griphus at 11:00 AM on November 12, 2013 [3 favorites]

I literally just heard a radio ad with the disclaimer that 23 is not medical information. According to them, via various media, the answer to your question is no.
posted by Lesser Shrew at 11:33 AM on November 12, 2013 [1 favorite]

I'm giving 23andMe as gifts for Channukah this year, I think it will be interesting. As an Ashkenazi Jew, with a family history of breast and ovarian cancer, I would NOT use this as a genetic screening for serious diseases.

It'll be interesting, but the difference in cost is not enough for me to gamble my future generations on.

Do the right thing, get the proper screening. Do 23andMe for fun.
posted by Ruthless Bunny at 12:19 PM on November 12, 2013 [2 favorites]

This is what Dor Yeshorim (I suppose this is the service your rabbi is talking about) is designed for.

Do you want a layperson's guesswork when it comes to your offspring?

Or do you want an actual answer from a service designed for this very purpose?

Get both.
posted by skbw at 12:36 PM on November 12, 2013

Our genetic counseling and testing (through my OB/GYN and maternal fetal medicine) was covered under my health insurance (also included chromosomal testing, which cost me about $20 coinsurance).

The fact that my providers won't do the testing without the genetic counseling is a pretty strong indication to me that you don't want to do the DIY route.* I'd go with the community event (if it's with an actual genetic counselor, which I assume it is) or through a maternal/fetal medicine provider that is recommended by your GYN. If you have risk factors (age, Ashkenazi Jewish) I would bet you will not have a problem getting it done, probably even if you are not pregnant yet.

*Full disclosure my father is a clinical geneticist, so I may have a medical professional bias


(I am not Jewish, my husband is, and I am the Tay Sachs carrier. Go figure.)
posted by Pax at 12:50 PM on November 12, 2013 [3 favorites]

23andme is cool, but it is not real genetic counseling. $360 is so much a drop in the bucket when it comes to prenatal care, I would go for the real thing. This is not something to cheap out on.
posted by KathrynT at 1:17 PM on November 12, 2013

There can be interpretation involved in reading Tay-Sachs genetic test results. I know of at least one case where the genetic counselor determined the risk as *ambiguous,* not black and white "yes/no," for a couple in which one partner was Ashkenazi and the other half Ashkenazi and half-WASP, for example, at which point said couple had to do a risk assessment with the genetic counselor.

N'thing don't fuck around with entertainment websites for something so potentially complicated and important.

Also, genetic counseling should be covered by insurance if indicated. I doubt that's true for a web service that disclaims medical validity explicitly.
posted by spitbull at 2:26 PM on November 12, 2013 [1 favorite]

I would not suggest Dor Yeshorim in this situation. Dor Yeshorim was created for a very niche segment of the population with specific needs (not just Jews in general) and the service they offer does not tell people if they are carriers - it only reveals whether a particular couple is OK/safe to have kids together or not. They came up with this method to work around the stigma associated with being a carrier, which is sometimes an issue within the Orthodox Jewish community's matchmaking system. If you are not part of that community and actually want to know what you and your fiancee are carriers for, go with a different organization. There are other groups geared toward the broader Jewish community that go about testing and giving results in a more standard way.
posted by needs more cowbell at 7:00 PM on November 12, 2013 [3 favorites]

Our genetic counseling and testing (through my OB/GYN and maternal fetal medicine) was covered under my health insurance (also included chromosomal testing, which cost me about $20 coinsurance).

This. Talk to your OB/GYN. This isn't an unusual test; it's offered by the likes of LabCorp and Quest Diagnostics. My then-husband and I were tested over two decades ago as a standard part of our pre-natal workup, once my OB/GYN was informed that we were both Ashkenazi Jews. Insurance paid for everything.
posted by Wordwoman at 7:33 PM on November 12, 2013 [1 favorite]

The test results from 23andme are based mostly on what are called genome-wide association studies (commonly abbreviated as GWAS in literature). These look at collections of single-base mutations across large populations, to see if any disease or other interesting traits associate with these mutations. GWAS studies as yet have very little predictive power:

Patients inquiring about genome-wide association testing should be advised that at present the results of such testing have no value in predicting risk and are not clinically directive... A decision to undergo genome-wide association testing may result in the diversion of scarce time and resources to counseling or follow-up investigation of findings.

Further, the associations made in a 23andme analysis are largely diseases of a different sort than what afflict, say, Ashkenazi Jews, which are part of a class called Mendelian or single-gene disorders.

While a 23andme result does include some tests for Mendelian disorders and might satisfy religious requirements, it would really be best to go to a dedicated genetic counselor who will be able to focus their tests to your specific needs (example).

That's not to say the science underpinning 23andme is unsound, but rather you and your partner are not the right customers for what they sell.
posted by Blazecock Pileon at 11:11 PM on November 12, 2013

I think the money spent on counselling provided by someone expert on those particular disorders is money well spent.

If something comes back on the 23andme test, what will you do?

What is your plan if you find out you're both carriers for Gaucher disease? If you don't know, you need to discuss doing these tests with a counsellor, ideally before you send off the sample so they can let you in on the legal and medical ramifications, and afterwards to go through the results. The JFMC program sounds interesting, but I would recommend going to see someone who will give you an in-person consult. I don't think a phone call is sufficient for this kind of information.

Never do a test unless you know what you're going to with the result.

If you want to do the 23andme test for fun, go ahead and do that, but treat it as a separate issue from your medical genetic interest.
posted by chiquitita at 12:25 AM on November 13, 2013 [2 favorites]

Update on the FDA's problems with 23andMe.

The Food and Drug Administration has ordered DNA testing company 23andMe to stop marketing its over-the-counter genetic test, saying it’s being sold illegally to diagnose diseases, and with no proof it actually works.
posted by Pax at 12:27 PM on November 25, 2013