Participants must have a medical condition with a known or suspected genetic origin or be a family member of someone who has medical condition with a known or suspected genetic cause. If you believe you are eligible and are interested in participating, please contact ingenuiti@berkeley.edu.

If you choose to participate in this study, there will be several study components you will be invited to engage in. To enroll, you’ll be asked to complete a brief online survey and set up time to meet with an INGENUITI investigator. Depending on your situation, you may be asked to provide a blood sample(s) or help INGENUITI investigators access data or samples collected from you by others.

There is no cost to participate in INGENUITI to you or your insurers. There is also no compensation for participating.

If you are not already undergoing clinical genetics sequencing at the IGI Clinical Lab, a test would be ordered for you by a clinician investigator and paid for by the study. The clinician investigator would discuss what kind of results you would like returned to you in a report. You may also choose to have this report sent to clinicians you are a patient of. To do this test, the clinician would place an order to collect a blood sample from you.

If you have completed clinical genetic sequencing elsewhere and would like to participate, we may be able to use the data from this previous testing instead of ordering a new, redundant test.

In some cases, we would need to collect blood from you for experiments like our cell biology assays. We would attempt to do these experiments using leftover blood collected for the clinical genetics sampling, but if there is not enough, we would contact you. Blood could either be collected from you at the Innovative Genomics Institute Building in Berkeley, CA or at your home.

If you choose to participate, INGENUITI investigators may use cells collected from your blood in cell biology assays. In order to do this, the cells may be grown in a dish (i.e. in vitro) and/or “reprogrammed” to turn in to other types of cells. For example, investigators could isolate white blood cells and induce them to become an immature stem cell called “induced pluripotent stem cells” (iPSCs). These cells could then be turned into other types of cells like muscle cells or neurons. We are not authorized to share individual results from these experiments with you.

Other types of tissue can be highly valuable to INGENUITI in order to verify experimental findings from other aspects of our study. If you are a study participant and undergo or have undergone a procedure that involved removing tissue from you for non-INGENUITI reasons (e.g. surgical removal of a tumor) and you would like to share that sample with INGENUITI, please contact an investigator at ingenuiti@berkeley.edu. We would prepare a letter requesting that specimen and may ask you to sign a form authorizing the sharing of protected health information with us.

A requirement for the sharing of your specimen with us is that any clinical use of that specimen is complete before it is shared with us. Sometimes, for example, samples removed via surgery are sent to a pathologist to make or verify a diagnosis and plan next steps for a case. These steps take priority over sending the sample to INGENUITI, even if that means no amount of the sample will be left over to share.

You would sign a disclosure form that will allow the investigators to use the results from your clinical genetics test for research purposes. The investigators may use such raw sequencing data to additionally study genetic variants of unknown significance and measure variables such as genetic ancestry. Data from such analyses may not be included in the clinical lab report you would receive because it would be investigational and not deemed to meet criteria to be included in clinical lab reports. We are not authorized to release any results beyond what would be listed on your clinical lab requisition.

With your permission, INGENUITI investigators may share samples or data collected from you with other researchers after the removal of any identifiers.

Minors are welcome to participate in INGENUITI as long as a parent or guardian is willing to grant permission. The parent or guardian may choose to be present for any study procedures and will serve as the primary contact for investigators.

We understand that family members may wish to participate in research studies like INGENUITI together. If you are interested in enrolling as a family, each family member must enroll and consent to participate individually. During enrollment, you will be able to list each other’s names. We will also give you the choice to participate in things like the enrollment meeting together, as long as you all agree.

While INGENUITI enables scientists to study the biochemical performance of gene editing tools like CRISPR-Cas9 in human cells, INGENUITI is itself not designed to develop or deliver therapies. We are not authorized to offer advice regarding treatment options in our capacity as study investigators. INGENUITI investigators are committed to making de-identified data available for other research projects, though, including those aiming to develop therapies. Additionally, should INGENUITI investigators learn of approved studies of therapeutics for conditions like yours, we are glad to direct you towards those other studies if you give us permission to contact you for that.