Challenges to Precision Medicine
In order to reap all of the benefits of precision medicine, large datasets need to be collected to make sense of whole genome sequencing data. This comes with privacy issues, such as genome-data sharing with physicians and between laboratories, and concerns for potential abuse of information by medical insurers, said Xue Zhong Liu, MD, PhD, Marian and Walter Hotchkiss Chair in otolaryngology and vice chair of research at the University of Miami Miller School of Medicine, and co-author of the Journal of Genetics and Genomics study.
Explore this issue:January 2019
To overcome challenges with data collection, Dr. Liu recommends ensuring de-identified genetic data and corresponding demographic and clinical information. “Research suggests that patients are open to sharing de-identified genetic and health data,” he said.
Dr. Adunka said informing patients about the success of precision medicine with a certain diagnosis can help patients appreciate the importance of data collection.
Another ethical challenge identified in Dr. Liu’s study is using pre-implantation genetic diagnosis in the selection for and against specific traits in fertilized embryos prior to in vitro fertilization, Dr. Roehm said. This could become an ethical issue if the technology is used to direct selective abortion following chorionic villus sampling or amniocentesis.
The speed at which new genetic and genomic technologies are being developed further complicates the field of precision medicine. “Technology is outpacing our ability to meaningfully interpret all findings and develop clinical and medical guidelines as well as the infrastructure for incorporating results into clinical care,” Dr. Liu said. “Without standardized guidelines, there is no consistency among practitioners. Most electronic health record systems aren’t equipped to handle genomic/genetic data in a straightforward manner. Finally, many physicians and patients don’t have the necessary background to fully comprehend the finding’s possible ramifications.”
To address this challenge, professional societies must stay abreast of changes in technologies and provide guidance to their members, enlisting the aid of genetic researchers, physicians, and counselors, Dr. Liu said. Electronic health record systems need to be adapted to capture data from these technologies and store it in a manner that’s useful to physicians. Educating physicians and patients must be done at appropriate levels so both stakeholders can make informed decisions and recommendations.
To get more otolaryngologists on board with using precision medicine, Dr. Liu recommends providing them with easily available information on how to obtain genetic testing and where to send for genetic hearing loss panels. Guidelines on when to send for genetic testing should be developed and published.
Courses in bioinformatics and statistical analysis of the results of precision medicine studies would help physicians once the application of precision medicine to human disease is more practical, Dr. Roehm added.