Prospective participants and their treating physicians must be aware of the uncertainties involved in our study and the possible outcomes.
- Whole genome and exome sequencing is still a fairly new approach. It does not always lead to definitive answers. There are no guarantees that we will find one or more genetic variants responsible for a child’s condition.
- Exome and genome sequencing yields extremely large quantities of data. Unfortunately, we don’t understand most of it yet. While we believe that exome sequencing is a worthwhile endeavor, it is possible that we will not find any information that is directly relevant to a child’s condition.
- Even if we do find one or more causative changes in a child’s DNA, we cannot be certain that the information will lead to a definitive diagnosis, let alone an effective treatment strategy.
- Apart from finding genetic changes that cause disease in children, one of our goals is to return genetic information to participating families. Thus, one of the questions we ask prospective participants is: “How much do you want to know about your own DNA?” While it is true that we understand relatively little of the information, we are still likely to find dozens of variants that could have some bearing on a person’s response to medications, which genetic diseases a person is an unaffected carrier for, and which traits a person may carry or develop later in life.
- If any of these additional variants are known to be life-threatening if left untreated, we will inform a participant’s physician as soon as possible. We make genetic counseling available to participants at no cost. If a participant does not wish to be made aware of any treatable, life-threatening conditions, then they should not participate in this study.
- This extra information is considered to be research. That means it should not be used to make any health care decisions until it has been confirmed by a certified clinical laboratory. Unfortunately, we cannot provide clinical confirmation testing of any variants except those related to the immediate health condition of a participant.
- Participants are not obligated to receive any information other than that which we deem to be life-threatening and treatable. We ask participants about their preferences for knowing additional information before enrolling in the study. Participants may change their minds later on and inform us of their preferences.
- Participants are free to leave the study at any time with no penalty or loss of benefits. However, once genetic information has been generated and shared, whether with researchers, doctors or participants themselves, it is impossible to guarantee that it will be kept confidential.
We urge participants and their families to think carefully about their decisions to receive genetic information and to discuss options and considerations with family members.
Task Force for Neonatal Genomics
Duke University Medical Center
300 N Duke St.
DUMC Box 104775
Durham, NC 27701