Healthcare has plenty of clinical data. But with a variety of disparate sources creating gaps in information, higher data quality is a top priority for those looking to support the growing field of precision medicine.
In this webinar, Will genetics and genomics deliver precision health?, experts explain recent advancements in the field of genetics and genomics and discuss how healthcare professionals are now able to identify future risks of disease and develop personalized approaches to treat and prevent them. The speakers also expand on the challenges and opportunities that come with incorporating genetic screening programs into routine care.
For excerpts and clips from the discussion, continue reading below.
The three areas of genetic information
Andrew Kanter, MD, MPH, FACMI, FAMIA, IMO Senior Advisor and former Chief Medical Officer, categorizes genomic information into three areas:
- Disease risk
- Pharmacogenomics
- The genome of the disease itself
He highlights not only the importance of ensuring the accuracy and quality of data, but also the need to transform it into actionable information that patients and clinicians can understand. Additionally, he notes that technology, like electronic health records (EHRs), can support clinicians in their practice by remembering all the gene sequences and differences, since it’s not practical to expect them to take on that burden.
Getting the right information to the right people
Director of Genomes2People, Dr. Robert Green, MD, MPH, discusses the concerns related to genetic testing – including psychological distress, privacy, and discrimination. He argues that the data gathered suggests that people are well-equipped to manage the results. In truth, he believes the real challenge lies in getting this information to the people who can act on it reasonably – decision-makers. Dr. Green suggests that it’s not a question of whether to screen for disease-associated mutations, but one of logistics.
The Three Pillars approach
Tomi Pastinen, MD, PhD, Director of the Genomic Medicine Center (GMC) at Children’s Mercy Research Institute (CMRI), notes that while the technologies needed to study genomics are rapidly advancing, both in availability and accuracy, their costs are not. With the amount of genomic data available in the public domain, it allows computational interpretation of human genome sequences in a clinical fashion, which was completely unheard of just a few years ago.
However, there are still challenges to improving the diagnostic rate. Dr. Pastinen outlines CMRI’s Three Pillars approach to address the issue:
- Technology: Utilizing newer sequencing technologies that allow higher resolution of the genome and measuring how the genome functions by analyzing RNA produced
- Data sharing: Sharing data with other investigators and clinical labs that are doing rare disease sequencing to find new genes for rare diseases
- Philanthropy: Using generous philanthropy from the community to provide advanced genomic medicine sequencing to all patients at no cost
