I recently had a discussion with Dr. Aleks Rajkovic, Chief Genomics Officer at UCSF Health and Chair of Track 3 at PMWC Silicon Valley Jan 21-24, 2020. He shared his views on the advancements of clinical genomics implementation in the clinical setting. Find the full interview on our blog post. Following are some excerpts from the interview.

“Clinical genomics has been plagued by the lack of what one would call very solid clinical utility data.”
We don’t have trials with thousands of people with one disease where we can show that early (genetic) diagnosis can lead to diminished costs for the insurance provider and can improve the lives of patients. UCSF participates in an NIH funded study on clinical utility of genomics in prenatal and pediatric setting. There is also an ongoing study in the state of California, in which UCSF is a participant, to determine the clinical utility of whole genome sequencing in the neonatal setting. Each individual genetic disorder is relatively rare, but in aggregate genetic disorders account for 30 – 40 percent of pediatric hospital expenses. Many genetic disorders are metabolic diseases that occur in childhood and can now be treated with appropriate enzyme replacement therapies. There are more and more gene therapy trials. In addition, a subset of these diseases is amenable to genome editing which will become more common to treat genetic disorders. Since most of these diseases are rare, randomized control trials are difficult to conduct to demonstrate their utility.

“Clinical genomics, in many situations, is a money loser.”
Clinical genetic testing within a health system overall is not profitable. The primary reason is poor reimbursement and undersourced billing and authorization services at medical centers. As a result, some health systems have decided to outsource genetic testing. Clinical geneticists see complex patients who require significant time, which is poorly reimbursed. Genetic counselors are not profitable either. They cannot bill Medicare and also require significant time with patients and their affected family members. Nonetheless, delivery of these services, although not profitable, are critical across the spectrum of specialties since almost all specialties are now impacted by genetic testing and ideally require local genetic expertise.

“We need to make genetic testing and counseling as effortless as possible for our primary care physicians.”
One effort that will require full integration and adoption in the clinic is population-based sequencing. Even though primary care physicians (PCPs) are very interested in using this information for their patients, they do not want information overload and they do not want to add another five to ten minutes to visits explaining what this means or doesn’t mean. At UCSF where population sequencing is being performed and actionable results are returned, we have to minimize involvement of primary care physicians and provide backup genetic services. Within UCSF, this will happen with the patient’s consent and the findings will be integrated into electronic medical records in a usable form for PCPs. This is important for PCPs because at this time they are not going to be interpreting the reports and as such, they are not going to be dealing with variants of unknown significance or other technicalities of genetic testing. Every practice is different, but in general, it is essential that PCP concerns are taken into account in the setting where population-based sequencing is conducted. Moreover, education of PCPs will become essential to improve their participation and empower their ability to incorporate genomic results into the regular care of their patients.

“As a call to action, we should make sure that whole-genome sequencing is part of standard of care and is being reimbursed appropriately, because it is becoming a very important and essential part of healthcare.”
For this to happen there actually needs to be some conversation at the state level. Why is genetic testing facing so many obstacles compared to other types of testing, like MRIs or CAT scans? The state may decide that this is not the way to treat patients and that we should make sure that all of our disadvantaged populations, such as patients who cannot afford it, patients without insurance, and patients that face the real possibility of bankruptcy due to healthcare costs will have unfettered access to genomic testing and genomic cures. Practicing physicians should not need to spend hours seeking authorization for a particular test and revolutionary genomic applications in the clinical space should not have to rely on philanthropy.

PMWC 2020 Silicon Valley has planned a three-day “Diagnostics in Clinical Practice” Track 3, that centers around various genomics applications and challenges in the clinical setting including:

• Women’s health chaired by Dr. Aleks Rajkovic, UCSF Health
• Successful genomics programs – research and clinical– chaired by Clara Lajonchere
• Implementing precision medicine in community hospitals – chaired by Mike Pellini, Section 32
• Oncology Application (Liquid Biopsy) – chaired by Wei Zhang, Wake Forest Health
• PGx policymaking in real time – chaired by Jennifer Leib, Innovation Policy Solutions
• Precision oncology in practice, using thoracic cancer as a model – chaired by Ronnie Andrews, Oncocyte
• Precision pharmacotherapy – chaired by Mary Relling, St. Jude Children’s Research Hospital
• Preventing Global Disparities in Genomic Healthcare – chaired by Nadeem Sarwar, Eisai
• Drug and disease induced phenoconversion – chaired by Jacques Turgeon
• Microbial cell-free DNA: beyond infectious disease – chaired by Mickey Kertesz
• Creating sustainable genomic testing service within healthcare – chaired by Phil Febbo, Illumina
• The participant at the center – chaired by Deven McGraw, Ciitizen
• Unique population study collaborations – chaired by Dr. Aleks Rajkovic, UCSF Health
• California State Government Efforts in Precision Medicine– by Shannon Muir, Governor’s Office of Planning and Research
• Unlocking the Potential of Precision Medicine in Primary Care – by Mylynda Massart, UPMC
• Clinical Implementation of Polygenic Risk Score – chaired by Atray Dixit, Coral Genomics
• Metagenomic Testing for Infectious Disease – by Hannah Sample, UCSF
• Fireside Chat Cliff Hudis, ASCO & Bonnie Anderson, Veracyte, Inc.
• The VA’s Pharmacogenomic Screening by Deepak Voora, Duke University
• Precision Medicine For Obesity Andres Acosta, Mayo Clinic

In addition, PMWC 2020 will have four more tracks that focus on the following themes:

• “Emerging Therapeutics” (Track 1),
• “AI & Data Science” (Track 2),
• “Molecular Profiling – From Research to the Clinic” (Track 4)
• “Health Data, Microbial Monitoring, & Patient Education” (Track 5).

Dr. Rajkovic will chair two sessions within Track 3, including the Women’s Health session: Researchers have long been recognizing the uniqueness of women’s health and the substantial effect on clinical practice, acknowledging the increasing appreciation of the importance of multidisciplinary approaches to health and disease. This session will include the effect of women’s health on the following topics: Preterm Birth & the Promise of Biomarkers, NIPT, Carrier Screening and Moving to Whole Genome, Endrometriosis, Menopause & Osteoporosis, and Breast Cancer.

Showcase Tracks
The PMWC 2020 Showcase tracks provide a platform for a select number of cutting edge, innovative companies, researchers and healthcare providers to present their new technologies and research that intends to disrupt healthcare. In addition to the “Clinical Dx Showcase” track chaired by Aleks Rajkovic, PMWC 2020 includes the following showcases:

• Clinical and Research Tools – chaired by Chhaya Shadra, Verana Health
• AI & Data Sciences – chaired by Stan Huff, Intermountain Healthcare
• Emerging Therapeutics – chaired by Theresa LaValle, Parker Institute
• Genomic profiling – chaired by Chris Cournoyer, N-of-One
• Health Monitoring – chaired by Mike Snyder, Stanford
• Microbial profiling – chaired by Manoj Dadlani, COSMOSID

Register by to take advantage of the current discounted rate!