Rare diseases, most of which have a genetic basis, collectively affect an estimated 300 million individuals worldwide and are associated with significant morbidity and mortality. Although less than 10% of rare diseases currently have an approved therapy, advances in gene and gene-targeted therapies have brought hope of effective—or even curative—treatment. While the potential for cure has prompted justifiable excitement, the high upfront cost of many of these therapies also raises complex ethical and policy issues.
PROJECT NARRATIVE The goal of the proposed research is to investigate how clinical genomic sequencing impacts families of pediatric patients. This research will develop an empirically informed framework of normative values important to families of pediatric patients, including ethical, legal, and social implications (ELSI), which will then be used to elicit preferences for features of sequencing from a nationally representative sample of parents in the US.
PROJECT NARRATIVE Though any single rare disease is by definition uncommon, together these diseases affect nearly 30 million individuals in the United States, two-thirds of whom are children, and contribute significantly to morbidity, mortality, and healthcare costs. Exome and whole genome sequencing have the potential to provide a diagnosis to an estimated 25 to 50 percent of those patients struggling with undiagnosed rare diseases, but the downstream costs and benefits of this testing beyond diagnosis remain largely unknown.
Project Narrative Currently, there are marked differences in variant classification among clinical laboratories, and genetic variant classification is currently in flux with improvements in the access to ethnically diverse reference data and new algorithms to predict the pathogenicity of variants. As variants are re-classified over time, there is currently no definitive guidance from professional organizations about how to handle this variant reclassification and who has the duty to re-classify variants and what those obligations are.
This study will focus on setting priorities in the screening, testing, counseling, and treatment of pre-symptomatic and contingent genetic conditions. Under the assumption that unlimited resources will not be immediately available for smoothly introducing genome research into the clinical arena, this project will develop an ethically sound set of priorities to guide this process.
This project will examine the issue of affording access to the technologies that are expected to emerge from the Human Genome Project (HGP). The potential impact of these technologies on the fate of individuals, families, and ultimately, the species itself, will make the question of who is given access to them highly controversial.
This project will examine the moral basis of, and legal and policy framework for, health and life insurance in light of the increase that the HGP is expected to generate in genetic screening capacity to predict disease, disability, and premature death. A core group of 12 experts from ethics, law, regulation, business economics, actuary science, medicine, and genetics has been assembled. The group will first analyze the numerous unresolved issues in this field, and each member will prepare a paper on an aspect of the topic.
This project will study the role of patient preferences and other factors in choices regarding use of prenatal screening for and diagnosis of chromosomal disorders in a racially/ethnically diverse population. The study will collect detailed information regarding the distribution of individual preferences for test characteristics and outcomes by racial/ethnic group, as well as other factors which may be related to choices regarding the use of these tests.