Precision Health Symposium addresses progress and challenges

The second annual Ginsburg Symposium on Precision Healthheld in May at the UCLA Luskin Conference Centerfocused on precision pediatric healthcare, which John Mazziotta, MD, PhDUCLA’s vice chancellor of health sciences, recognizes that it holds the key to the future of medicine.

It’s an important frontier, said Dr. Mazziotta, also the CEO of UCLA Health.

Precision health refers to the use of genomic testing to prevent, diagnose and treat diseases with unprecedented specificity. By analyzing an individual’s genetic code and medical biomarkers, physicians can offer tailored therapies that are often less invasive and more long-lasting than traditional treatments.

Precision medicine is being used to diagnose rare diseases and is leading to breakthroughs in oncology, cardiology, neurology, genetic and infectious diseases.

Genetic diseases have led to a revolution in our understanding of biology, with thousands of diseases now being decoded since the first positional cloning of disease genes in 1986, he said Stanley Nelson, MDDr. Allen and Charlotte Ginsburg Endowed Chairs in Translational Genomics and director of the California Center for Rare Diseases at UCLArecently named a Center of excellence by the National Organization for Rare Disorders. With these technological advances, hundreds of other genetic diseases are being identified and genomics is now being routinely applied to clinical practice.

The one-day precision medicine symposium, made possible with funding from the Ginsburgs, highlighted the latest developments and challenges in targeted gene therapies for pediatric patients.

Speakers included Katherine High, MD, who detailed her multi-year program to replace a missing gene in the retina to restore vision to children with inherited retinal dystrophy that is now in clinical use. Noah Federman, MD, director of the Pediatric Bone and Soft Tissue Sarcoma program at UCLA Health, described data from clinical trials demonstrating a new drug that targets a specific mutation in childhood fibrosarcoma (a cancer of the connective tissue between bones) that has essentially eliminated the need for chemotherapy and led to complete recovery in many patients. John Tisdale, MD, described a gene therapy to prevent pain crises in sickle cell anemia.

While there are only a few FDA-approved gene therapies, there is early approval of gene therapy for the treatment of Duchenne muscular dystrophy, one of the most common life-threatening genetic disorders, says Dr. Nelson, and a growing number of new therapies it will soon emerge for a variety of genetic diseases.

Gene therapy infusions for pediatric patients can compensate for genetic alterations by introducing new genetic material into cells, he explains Clear LajoncherePh.Ddeputy director of UCLA Institute for Precision Healthwhile genome editing allows you to modify the existing DNA within a cell.

Ethics, access, equity

The symposium also spent significant time addressing ethics, access, equity, and education issues around this emerging approach to patient care.

As revolutionary as gene therapies are, there are many unanswered questions about who gets access to genomic testing and genetic treatments, said Ellen Wright Clayton, MD, JD, a professor at Nashvilles Vanderbilt University who studies pediatric ethics and genetic testing.

Among the questions raised by Dr. Clayton:

  • Who decides which newborns can undergo genetic testing when there is no clear clinical indication or condition that requires it?
  • Who pays for such tests?
  • What are the goals when performing whole genome sequencing on newborns?
  • How often should children undergo genetic testing and at whose request?
  • What should be done in cases where the results are not actionable?
  • What about privacy concerns, especially regarding direct-to-consumer genetic testing?

He noted that genetic testing is most often available at academic medical centers, meaning it’s often out of reach for people in rural areas. And doctors don’t always know what to do with the information uncovered by genetic testing, she said.

Another speaker, Aaron Goldenberg, PhD, a professor at Case Western Reserve University School of Medicine, also discussed the ethical and legal implications of gene therapies for pediatric patients.

Only a small fraction of genetic research to date has been conducted on people of color, so the results are heavily biased in favor of people of white European ancestry, he said.

That bias leads to translational biases, said Dr. Goldenberg. It leads to limitations of ancestry testing to genetic testing where the tests may not be as meaningful to underrepresented community families. The concern is that it will also result in gene-targeted therapies that gene-targeted therapies developed on research only within certain geographic communities may not be as effective and may be less beneficial to families in underrepresented communities.

Some communities are also reluctant to participate in genetic testing due to past experiences and distrust of genetic researchers and the medical establishment, he noted. Nanibaa Garrison, PhDassociate professor at the David Geffen School of Medicine at UCLA which collaborates with the Institute for Society and Genetics and the Institute for Precision Health.

He pointed to the experiences of the Havasupai tribe, of which The DNA has been misused by Arizona State University researchers, resulting in a 2004 lawsuit and raising questions about how to ethically include marginalized populations in genetic research. Indigenous people, who make up 2.9 percent of the U.S. population, account for just 0.02 percent of the genetic research population, he said.

Dr. Garrison noted that the Navajo Nation has had a moratorium on participation in genetic research studies since 2002.

Speakers urged scientists and physicians and ultimately policy makers and insurance companies to consider ethical issues and access to genetic testing and targeted gene therapies as the science expands.

Science is the foundation, said Dr. Clayton. But for this to deliver real value to real people, we still have a lot of work to do.

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