Summary of Key Areas for Research

Genome sequencing has entered mainstream medical practice and is becoming more widely available by direct-to-consumer testing. Its use is primarily to diagnose rare conditions, to improve the accuracy of disease risk prediction, and to identify the etiology of developmental disorders, such as autism with other features. Patients, consumers, and healthcare providers are increasingly more familiar with and interested in the contribution of genomics to health and diseases. Studies of early adopters of sequencing demonstrate their interest in a variety of clinical results and often find personal utility from their results or results on their children. Evidence to date, as reviewed in the chapters of this book, has shown that receiving results of genome sequencing is appreciated by recipients with little evidence of psychological distress. As we have learned from medicine generally and from predictive and diagnostic single-gene testing, receiving information about a medical condition or hereditary risk from genome sequencing can often be better than the lack of an etiology, even when it does not (yet) guide treatment. In the context of cancer, genome sequencing has led to targeted and effective drugs for rare types of cancer at an astounding rate and patients’ quality of life and life expectancy are improving with targeted treatments. Yet, the challenges of meeting end-users’ expectations, ensuring accurate understanding of a variety of types of results, and helping recipients to manage receipt of uncertain results, argue for the importance of integrating genomics into an array of psychological considerations.