Identifying strategies to reveal genetic results over the lifespan

Brigham And Women'S Hospital, Boston MA

Investigators

Abstract

Project abstract The widespread sequencing of healthy babies is imminent: at least a dozen research projects have recently launched, and several companies offer newborn genetic screening panels. A newborn’s genome can contain health information of relevance across their lifespan — as a baby, later in childhood, and in adulthood. This poses a timing issue: if babies are sequenced near birth, when should this information be revealed? A proposed vision for the future of genomic medicine is to reveal information as it becomes relevant, to the child’s parents and later, if desired, to the individual. This would necessitate the genome being kept “on file,” to be used as a resource over time. This strategy may promote the ethical rollout of lifelong genomic medicine by promoting the developing child’s autonomy and optimizing the balance of benefits to risks. However, the feasibility of this strategy, the details of its implementation, and its implications have yet to be explored in a rigorous and empirical manner. Perhaps other approaches are preferable. A second, simplified, strategy would reveal all childhood-relevant information at birth and then give the individual the option of receiving adult-onset information at age 18. A third strategy would reject using the genome as a resource over time, and just generate one report for a baby, potentially including adult-onset information. This strategy may be preferable because the use of the genome as a resource raises complex ethical, legal, and social implications (ELSI), including data control, privacy, consent, legal obligations, and decision making about when information becomes relevant. For these different strategies, this project will 1) Determine their feasibility, 2) Assess the ELSI, 3) Understand the preferences of parents, using two cohorts that have already consented to their healthy babies being sequenced, and 4) Develop consensus on the necessary and desirable features for a strategy to sequence babies near birth, possibly using the genome as a resource over time. The project will have impact by producing concrete, evidence-based and ethically-framed recommendations for implementers of newborn sequencing.