Frequently Asked Questions
Have a question about GenePeeks? If we don't answer it below, please don't hesitate to contact our customer support team. We've also created a glossary to explain some of the genetics terms you'll find on this site.
What is the connection between DNA and health?
A normal human genome contains around 20,000 genes that are required for development and the healthy functioning of the cells and organs in a human body. Mutations are changes in DNA that can sometimes cause genes to malfunction. In certain combinations mutations can lead to expression of heritable disease.
What is gene sequencing? Why is it better?
Current screens for reproductive risk are limited to investigating only clinically validated mutations. Clinical validation is typically accomplished by characterizing a mutation in one or more individuals with the disease. DNA sequencing, on the other hand, reads all the letters of targeted genes in a person's genome (known as the sequence). This process allows the detection of previously unknown mutations as well as all known ones.
With the research application of DNA sequencing to large numbers of healthy people over the last few years, numerous novel mutations have been uncovered in disease-associated genes. Individually, these mutations are so rare that they have not shown up in children who express disease, but they still have the potential to cause disease.
With DNA sequencing, GenePeeks can uncover all mutations in a targeted gene, including those that are clinically validated as well as mutations that have never been seen before in affected individuals.
How is GenePeeks different from traditional carrier screening?
Carrier screening of individuals—including individual donors—only gives you a limited amount of risk information. GenePeeks uses a revolutionary approach to screening that analyzes the combination of client and donor DNA, which allows us to see genetic risk more clearly for our target diseases. GenePeeks digitally weaves together your genetic information and a given donor's DNA to generate more than 1000 potential genetic combinations (for each donor pairing) that could affect the health of a child you might conceive. We rigorously screen for more than 500 genetic conditions with state-of-the-art, Next Generation DNA sequencing. The process allows us to look deeper inside target genes at both clinically validated mutations and mutations that are modeled as disrupters of gene function and likely to correlate with genetic disease.
How accurate are the results? How are the GenePeeks methods validated?
Next-generation DNA sequencing technology was invented by molecular geneticists working at biomedical institutions that include Harvard Medical School, the University of Washington and the National Institutes of Health. The international community of scientists developed exceedingly strict methods of computational validation for data produced by sequencing technology.
GenePeeks uses a sequencing platform designed by industry-leader Illumina to generate personal genome information from each client and donor sample. We subject this data to a validation process that incorporates standard protocols and adds an extra layer of requirements specific to the needs of the GenePeeks analysis. In particular, we assume that clinically validated mutations are "guilty" (present in a client or donor genome) until the data prove otherwise. Finally, we know that we're looking at the right genotypes for our virtual offspring because we designed our patented technology using well-understood rules of genetics that have been tested and validated for more than a century of human genetic studies.
In practice, our analysis performs independent disease risk evaluations of each of the 1000 combinations of two million DNA basepairs that are generated from a recipient-donor pair, which ensures that our data are highly statistically significant for the single-locus diseases that we are screening. Our computational system has also been applied to the personal genome data of anonymous men and women whose genomes were sequenced in Phase III of the "1000 genomes" project funded by the National Institutes of Health. In total, we have screened millions of "virtual children" produced by these pairings and compared the incidence of the diseases predicted to disease incidence in the general population. These studies have confirmed the enhanced sensitivity of the Matchright analysis in predicting recessive disease risk in future generations.
For more information about the sensitivity, specificity and predictability of our technology, please see Information for Healthcare Providers.
Can I be sure that all combinations are considered?
Yes. GenePeeks digitally simulates more than 1000 potential genetic combinations for you and each of our donors. This method ensures that our data are highly statistically significant for the recessive, single-gene diseases that we screen.
Does GenePeeks give me genetic information about my health the way other genetic companies do?
No, because our analysis doesn't focus on your individual genes alone. Our goal is to provide you with a catalogue of the healthiest donor choices for you. To achieve this, we look at how two genomes—yours and a potential donor's—might interact, simulating what would happen genetically during natural reproduction. Our model digitally previews many hypothetical genetic combinations, factoring in both confirmed and suspected mutations. The output of this complex algorithm is a customized catalogue that eliminates combinations that are flagged as potentially risky, providing you with a risk-screened list of donors rather than a detailed report of individual genetic information.
We are currently working to expand our offering to be able to provide individualized genetic information in the future. If you are interested in learning about potential health risks embedded in your own DNA, we encourage you to discuss traditional genetic testing with your doctor.
Can my family members learn anything from my GenePeeks analysis about their own health risks?
No. GenePeeks focuses on uncovering reproductive genetic risk that is specific to the genetic pairing of you and the donors in our network. In this way, your screening process is solely designed to find a healthy donor match based on your unique genetic profile. In the same way that this data cannot be used to make predictions about your own health, this data cannot be extended to predict disease risk in other members of your family.
Are the GenePeeks systems safe?
Yes. Every step in our process is safe and non-invasive, and our analysis is purely digital. Only a sample of your saliva is needed for the GenePeeks process.
Are the GenePeeks systems secure?
Can I use GenePeeks if I'm not using a donor sperm?
Not yet. GenePeeks currently works exclusively with clients who want to screen out sperm donors who may be a risky genetic match for them. However, we are working as quickly as possible to expand our offerings and share our technology with anyone planning a pregnancy in advance.
Do donors know that their samples are being screened?
Yes. All donors in the GenePeeks program have agreed to share their genetic information to help our clients protect the health of their future families.
Will my insurance pay for this service?
Possibly. Many insurance companies still view fertility services as "elective" procedures. However, we are seeing a positive trend in coverage. Please check your insurance policy regarding coverage. We do not have the facilities to bill insurance companies directly for reimbursement at this time, but we can provide you with an invoice to assist you in completing the insurance claim form.
Are your services available outside the U.S?
Not at this time, but we are working hard to expand our services beyond U.S. borders. Please contact us if you are an international client who is interested in using our services. We may be able to prioritize certain countries and regions based on demand.