consent, assent, confidentiality, fatty acid oxidation, genetics, biobanking, screening, newborns, children
Fatty acid oxidation disorders are rare, potentially fatal health conditions that affect how a body metabolizes fat for energy.1 Newborn screening (NBS) programs can detect these diseases shortly after birth and are routinely performed in many countries. Left undetected and untreated, individuals with fatty acid oxidation defects are at risk for cardiomyopathy and skeletal myopathy, among other health challenges.2 Although NBS approaches have advanced presymptomatic detection of fatty acid oxidation disorders, confirmatory tests using biochemical methods are required but are not always accurate.
A research team decided to investigate molecular genetic characteristics of samples collected from young children with fatty acid oxidation disorders to help guide future management and treatment approaches. After obtaining approval from a research ethics committee (REC), the researchers recruited affected children for the study and obtained informed consent from their parents. The consent form included information about the study purpose, procedures, relevant risks and inconveniences, expected benefits, data handling and confidentiality, access to results, voluntariness, right to withdraw, and details about prestudy and poststudy genetic counseling.
The parents were seen at the clinic where the study was introduced and explained. For those who agreed, the researchers collected 5 milliliters of blood from their child for genetic analysis. Upon study completion, the researchers notified family members of their findings and offered posttest genetic counseling. They planned to store the blood samples for 25 years and keep study data for 5 years, the latter being in accordance with local requirements. Future research use of the samples would require a new REC review and approval.
Questions
What are some ethical and regulatory issues that RECs should consider when reviewing research that involves children?
As the children grow older, do the researchers have any obligation to do anything else with the data/findings from their study?
When a child reaches age of majority, should they be the ones to consent to other research uses of the samples that were collected when they were young? Should their parents be informed? What about when the child becomes an adolescent—should they be afforded an opportunity to assent?
If the study team destroys all data, including identifiers, after 5 years, what complexities might this pose for this study or future studies?
