FREQUENTLY ASKED QUESTIONS
How will you protect the privacy of my/my child’s personal and genetic information?
Protection of personal information, including genetic information, is very important to us. Information gathered from this study will not be added to medical records. An exception to this might be if we were to return genetic results to you and you chose to share that information with your healthcare provider, or request that we send the results to them.
Participant information is stored in a protected, HIPAA-compliant database that is only accessible by select members of our research team. Genetic data is stored on a separate database that is restricted-access and HIPAA-compliant, and only contains de-identified information about participants- meaning that all potentially identifying information like date of birth, address, and names have been removed.
What happens to my/my child’s data after the study?
We are required by our funding agency (the National Institutes of Health) to deposit de-identified genetic data into a controlled-access database. These databases have restricted access, meaning only approved investigators are allowed access, and they must agree not to attempt to identify participants. By current technology, it is extremely unlikely that our participants can be identified from this database, which now includes genetic data from hundreds of thousands of individuals from all over the world. While we can never promise that re-identification from this database will never be possible, sharing data in this way helps other researchers learn about clefting and amplifies the value of your participation.
Will Insurance companies, healthcare providers, or private companies be able to access my/ my child’s genetic information from this study?
None of the information for this study is available to people outside the study team, except in the unlikely event of a security breach, and information from this study will not be shared or sold to any private company for any reason.
There are federal laws (The Genetic Information Nondiscrimination Act) that generally make it illegal for health insurance companies, group health plans, and most employers to discriminate against an individual based on their genetic information. Specifically, insurance companies are not allowed to request the genetic information that we get from this research; they cannot use genetic information when making decisions about eligibility or premiums; and employers with more than 15 employees cannot use genetic information to make hiring, promotion, or firing decisions. Please be aware that GINA does not protect against discrimination by companies that sell life insurance, disability insurance, or long-term care insurance.
What is the compensation for participation, and how is it provided?
We provide compensation for your time and effort for participating in our study. For each set of online surveys (4) completed, we will compensate you $25 in the form of an Amazon.com e-code. For participants outside the U.S., we will send a $25 Visa International card. For provision of samples, we provide $25 for each individual’s sample(s) returned to us. For example, if a child and his/her parents all return their samples, the compensation would be $75.
What will you do with my/my child’s photographs?
In our consent form, we have separate questions to address photographs. You do not have to provide photographs to participate in the rest of our study. However, photographs can be useful to us when comparing phenotypes (physical outcomes) to genotypes (genetic information), and can give us more detailed information than we can obtain in a survey.
The first part in the consent form is asking for your permission for us to take photographs (if you were to participate in person), or for you to send us photographs that you have.
The second part in the consent form is asking for your permission for publications, and has to do with presentations or papers that we may do in the future. Saying yes here would give us permission to potentially use the photos provided. Whenever possible, we would use de-identified versions of the photograph (like just showing parts of the face and not the whole face), if we use the photo at all. Most photos will not be shared outside of our study team. If you decline this second part, you can still send us pictures but only select study team members will be able to see them.
What kind of testing will you do with the DNA samples?
In general, once we have a large enough set of samples, we will do a genetic analysis by screening all of the DNA to look for genetic variations that may have contributed to clefting. We will try to identify variants at an individual level or within a family but most of our analyses require us to look at the data for all individuals together. The larger the set of samples we have, the better we can identify which variants are the most promising to be related to clefting, and which ones aren't.
OFCs are complicated in that in most cases there are likely many genetic factors that individually contribute a little bit of risk instead of one single gene variant (sometimes called a mutation), although there are some individuals and families where a single variant can be identified. In addition, environmental factors could also play a role. It is not clear at this time what the genetic risk factors are for most cleft cases and how they are influenced by environmental factors. Because of this, we do not yet know why some family members are affected while others are not or family members have different types of clefts. We are hoping to use the data from this study to start piecing together this puzzle to answer these questions.
Will we get the results of our genetic testing back?
The genetic analyses will be performed in a research capacity, which is different from clinical testing and cannot be used for formal diagnoses. It is unlikely that we will find results that would be meaningful or clinically useful on an individual level, so we do not typically send individualized results to participants.
If we do find something that may be of clinical concern, we would consult a medical geneticist and then we would notify you of our findings so you could follow-up with your physician to have testing confirmed by certified clinical lab. An example of when this might occur would if we identified a variant already known to cause OFCs or a syndrome (like Van der Woude syndrome).
How many times are DNA samples required?
We would only need to collect the samples one time. In the unlikely event that we are unable to process the sample for some reason or do not obtain enough DNA from the sample, we might ask you to provide another sample.
Would we be notified of research results at the end of the study?
Yes. We will notify all participants and send out summaries of our findings at the conclusion of our study. We will also be sending out newsletters with study updates periodically while the study is still in progress. Results that are published will be made publicly available online and we will let you how you can freely access these publications.
My child has already had lip and palate repairs. Does that matter?
I’ve completed my surveys and submitted my samples- now what?
No- the vast majority of our participants have already had repairs. If you have any pre-surgical photographs you'd like to send, those can be helpful for us to detail the cleft type and severity and compare the genotype (DNA sample) to the phenotype (physical outcome).
First, thank you to everyone who has provided a genetic sample to our study. We couldn’t do our work without participants like you!
When we receive saliva samples, the first step is to extract the DNA so we have a pure sample to work with. Once the DNA is extracted, we do some basic tests – we find out how much DNA we have, confirm that the sample matches the sex of the participant, and a few other quality control measures. Then, the DNA gets stored in a freezer for future use. In the meantime we draw up a pedigree based on the surveys you filled out and assemble family history and information on the type of cleft of the affected individual(s).
Once we have DNA and the accessory information, we have to wait until we have enough samples to send out for sequencing. Sequencing tells us the order in which the nucleotides in your DNA are arranged. We can use this information to find variations (mutations) in genes. Drawing conclusions about what genes may play a role in clefting requires a large set of samples – that is, DNA sequencing from a lot of individuals. If one person has a mutation in a gene, it’s hard to make a strong link between that gene and clefting. If we look at 500 or 1000 (or more) sequences of people who have clefts and find mutations in the same gene multiple times, that tells us that that gene may play a role in the development of a cleft.
What does this mean for you, the participant?
Our lab is constantly at work analyzing genetic information from people with clefts and their relatives. Because we need large sample sizes to draw conclusions, there may be a delay of a year or even several years between the time you provide your sample and when that sample is analyzed. Whenever we publish a paper on the research done in the lab, we post links to the paper on social media and our website so that participants can learn what we’ve discovered. Our work looks at the “big picture” – the result of analyzing hundreds or thousands of DNA samples. It is unlikely you will ever receive individual results from our study, as we are not a medical genetics lab authorized to provide genetic counseling. What you will see is the work we do with these large data sets, and what our conclusions mean about clefts.