SEATTLE -- How much do you want to know about your future children?
While it’s easier today than ever before to learn which traits you might pass down to your kids and which genetic diseases they are at risk for, most people don’t seriously consider genetic testing until after they are pregnant.
But, what if you learned your risk before pregnancy? Would it affect your reproductive decisions?
That’s what local researchers hope to find out in a new study that will offer potential parents more information than they might have ever known about their future offspring.
The Kaiser Permanente Center for Health Research will receive $8.1 million from the National Institutes of Health to conduct a clinical trial using whole genome sequencing to test women and their partners for mutations that could cause rare, but serious diseases in their children.
The first human genome was sequenced a decade ago and cost around $2.7 billion. While sequencing someone’s genome is still a complex process that involves creating a map of three billion letters of genetic code, the technology has advanced so much that it can now be completed within weeks for a few thousand dollars.
Whole genome sequencing provides an advantage over individual genetic tests because it allows researchers to locate multiple mutations at the same time. In this study, researchers will look for recessive genetic mutations for about 100 rare conditions. Some of the most serious include Tay-Sachs and Canavan diseases, which can cause early death in children. Others, such as Pendred and Usher syndromes, affect hearing and vision but are less severe.
Dr. Ben Wilfond, a pediatric bioethics expert at Seattle Children’s Research Institute and co-principal investigator on the study, said potential parents who are tested before pregnancy have the more time to research the diseases their future child would be at risk for so they can make a better-educated decision.
“It’s more challenging to process and seek out information under the stress of pregnancy,” he said.
For a child to develop a genetic disease both parents must have the genetic mutation and they both must pass on a copy of that mutation to the child, a likelihood of 25 percent. The Kaiser study will first sequence women’s genomes and if they are found to have a genetic mutation their partner’s genomes will also be sequenced.
Wilfond said parents ask for genetic testing for a variety of reasons. Some simply want as much information as possible; while others may choose to use in vitro fertilization to decrease their risk of passing on gene mutations.
“The important thing is to give people choices and make sure when they make those choices they have as good of information as possible about what might life be like with particular condition,” Wilfond said.
But not all prospective parents want genetic testing. Katie Garberding of Seattle has a son with a genetic disease and she said she would never be tested for such risk factors.
"Every child is a gift and has a purpose in life," Garberding said. "I have a son with genetic anomalies and he is truly a gift to not only my family, but to all that have the honor of knowing him."
Enrollment and study begins in 2014 and is only open to members of the Kaiser Permanente health plan in Oregon and Washington who have already requested preconception genetic testing. Patients who have these test orders in their medical records will then be asked if they'd like to participate in the whole genome sequencing study.
During the study, couples will be asked to fill out surveys about their experiences. Researchers are hoping to learn what information couples find most helpful, how the couples want the information presented, and how they use the information.
“Some prospective parents will want information about each of these conditions, but others will only be interested in learning their risk for some of the more serious diseases,” Wilfond said. “This study will allow us to provide the information that is important to couples and counsel them about their reproductive options.”