is reduce the number of individuals born with severe developmental regression or neuro-degenerative diseases. This can be complicated sometimes because of Amish religious teachings. For example, we could do in utero testing, but it doesn’t really matter if you find out that an unborn child has a disease if the parents say, “well, that’s God’s will, that’s the way it’s going to be.” So that kind of work which is done in the general population really doesn’t work for the Amish. Now, one of the things I’ve observed over the years is that younger generations are much more interested in becoming knowledgeable about some of these things, and they avail themselves of computers. You ought to see the numbers of horse and buggies tied up outside the county libraries! And you go in there, and there are all these Amish young men and women on the computers, looking up stuff. So they’re much more informed and more anxious to see what could be done, much more than the older individuals, who tend to say “It’s God’s will, it’s the way it is.” So there’s an opportunity, and it’s something that we’re very interested in exploring, mainly for the education of younger couples who are building their families. If you know—and we can test this in both parents—that they each carry the same mutation and have a 25% chance of having a child with this disease, they can decide whether they want to risk it. So we can do that, we can certainly do premarital and later testing to determine whether each parent carries a gene. It’s not unlike the big push now among Ashkenazi Jews, encouraging young people to come in before they have kids and get anonymously tested. They don’t have to tell you what you carry, but they say “you both have a gene which, if you both pass it on to your children, they will have 10 GeneWatch
a disease.” And they leave it up to the individual to decide whether they want to do it. Now, ultimately, I don’t want to change the Amish. It’s not my business, and we shouldn’t interfere with them. But I do think that knowledge is power. We offer free testing to anyone who wants it, and there are some parents who say they want their children tested. Now, what you do with that information is another thing—it doesn’t do much good to get tested and find out you have a mutation if you don’t also test your partner or prospective partner. I’m speaking frankly with you here—we’re not necessarily promoting any of this—but if we can make information available about transmission of diseases and basic genetics, then hopefully the population will use that to their benefit. But that’s a slow going process. Is there some way of reconciling things like premarital testing with that very important belief in God’s will? We have had meetings with some bishops and community leaders and raised that question: Would people accept this, do they think it’s an acceptable thing to do, or is it against their Ordnung. And it’s really interesting—I thought there would be a more uniform opinion, but there really isn’t. One bishop says, “I leave it up to the families,” and another says, “I’m not sure we want to do that, I’m concerned about what it might lead to.” So there isn’t a uniform opinion on this, but maybe eventually it will be addressed and become part of the discussion. Again, though, my role in all this is just primarily to tell them what information is out there, what tests can be done, and obviously it’s up their own
free will to do whatever they want to do. When you do research within the Amish community and come back and share those results, is it very well received? Very much so. You know, they’re essentially self-insured, they have their own funds they use to help families out, and they’re very aware of the burden of genetic diseases on the community and the cost of it. We often get families who find out about what we’re doing and ask if we can come do testing for them. Here is the best example: We discovered, about 7 or 8 years ago, a new mutation that causes hypertrophic cardiomyopathy, a heart condition which can cause sudden death at any age. We found the mutation that causes it, and we began testing for that. In adults, that’s a dominant disease, so it’s passed along with 50% probability to every child that you have. We’ve been at this for a few years, trying to identify individuals who carry the mutation, because they’re at risk of sudden death. And this has real health benefits—if caught in time, treatment can save your life. Well, it didn’t take long until we had people coming out of the woodwork asking to be tested. People are very tuned into heart disease, so this has really resonated in the community. As a general rule, Amish are very interested in knowing about their genes and the diseases that they cause, and now that we’ve been working in this community for years—we make a couple trips there every year, and we have some people working there full time—we’re getting invited to reunions and special occasions because people want to meet us. nnn
August-October 2013