From insight to action: Genomics and the future of medicine

Posted by Karen Sonnwald on Oct 24, 2019, 2:59:44 PM

The study of genomics is not new, but major advancements over the past few years make its application more suitable in everyday patient care and MEDNAX is at the forefront.

What was once considered science fiction has the potential to become mainstream medicine. As the nation’s leading provider of maternal-fetal, newborn and pediatric subspecialty care, MEDNAX has the size, scope and clinical expertise to make inroads with its Genomics Suite and Perinatal and Pediatric Genomics Collaboratives.

“Our Perinatal and Pediatric Genomics Collaboratives will help facilitate implementation of large-scale whole genome sequencing and promote the development of state-of-the-art innovative solutions that enhance the quality, safety and outcomes of mothers and babies,” says Ingrid Vasiliu-Feltes, MD, MBA, Chief Quality and Innovation Officer at MEDNAX.

Whole genome sequencing can show us an individual’s entire genetic makeup with a blood test or mouth swab. It gives physicians critical information to diagnose and treat patients with greater speed, safety and accuracy, streamlining access to the most appropriate care. In some cases, whole genome sequencing doesn’t uncover a current problem, but rather shows that a patient has increased risk of developing a disease in the future.

“Genomics has the potential to significantly improve clinical outcomes while reducing the overall cost of care,” says Dr. Vasiliu-Feltes. “The long-term vision is to enhance population health, forge precision medicine interventions and make important contributions to the global research community.”

A comprehensive approach

MEDNAX-affiliated physicians have long relied on the valuable information that genomics can provide, but the organization only recently introduced a formal service offering through its Genomics Suite and whole genome sequencing versus single-gene studies.

“Our ability to see the big picture and offer a full portfolio of services to our patients sets us apart,” says Tanya Sorensen, MD, MEDNAX-affiliated maternal-fetal medicine specialist and co-chair of the MEDNAX Perinatal Genomics Collaborative. “Our Genomics Suite is a valuable addition to our clinical repertoire and will generate scientific insights to drive future research.”

In Dr. Sorenson’s field of obstetrics/gynecology and maternal-fetal medicine, genomics can be used a variety of ways, such as pre-implantation, prenatal and postnatal testing to identify a variety of risk factors or conditions in both mother and baby. Certain types of genetic tests are routinely recommended for patients classified as high risk. Lower costs and higher diagnostic yields make universal whole genome sequencing a real possibility in the future.

Practical application of the technology extends to pediatrics as well. Estimates show that one in three babies admitted to a neonatal intensive care unit (NICU) in the United States has some form of congenital disease. Before whole genome sequencing, many conditions could not be identified at all, or could not be identified in a timely fashion. Whole genome or whole exome sequencing can identify new disease in nearly 40% of cases compared to single-gene testing.

“There are few areas of pediatrics that will not be heavily impacted by genomics,” says Wesley Gifford, MD, PhD, MEDNAX-affiliated pediatric hospitalist. “In part because genetic disease typically presents at early ages, prior to the effects of behavior and environmental factors which play a major role in the chronic diseases we see in adults.”

Dr. Gifford, who will spearhead MEDNAX’s Pediatric Genomics Collaborative, has extensive experience in sequencing technologies and contributed to groundbreaking genetic research at The Scripps Research Institute, the Salk Institute and the California Institute for Regenerative Medicine Disease. Whole genome sequencing in NICUs, he explains, shows great promise.

“The odds are high that for babies in the NICU with an anomaly, genetic mutation is the cause,” he says. “Genomic testing can give us the answers we need to treat the patient, while reducing the stress and anxiety felt by the parent and health care team alike.”

An added benefit is cost reduction. Anthony Rudine, MD, MEDNAX-affiliated neonatologist and co-chair of the Pediatric Genomics Collaborative, emphasizes that costs associated with genomic sequencing are rapidly decreasing each year as the technologies become more powerful and informative. “Targeted genomic sequencing in the neonatal population has the potential to truly impact not only the care of the patient,” says Dr. Rudine, “but the overall economics of neonatal care by improving quality, reducing wasteful evaluations and leveraging technological innovations as they become available to guide therapy.”

The role of genetic counseling

Whole genome sequencing provides a tremendous amount of information; but the information is only as good as its interpretation. Despite the increasing availability of consumer-friendly do-it-yourself genetic tests, the critical role of genetic counseling can’t be ignored.

Genetic counseling helps parents and patients understand what the information means and what it doesn’t, and how it will influence care through preventive measures or treatment. Genetic counseling will be offered to all patients who undergo testing in MEDNAX-affiliated practices. MEDNAX’s Genomics Suite includes a telehealth component to improve availability and access to genetic counseling. Telehealth gives patients the opportunity to video conference, when needed, with genetic experts across the country to put test results into the appropriate context.

Pushing the envelope

Practical application of genomics will continue to expand with technological and medical advancements. MEDNAX’s Genomics Collaboratives will create a forum for continued research, education and development. MEDNAX is also working to develop a first-of-its kind Genomic Registry, combining genomics, clinical data and artificial intelligence to drive precision medicine.

For more information about MEDNAX’s Genomics Suite or the Perinatal and Pediatric Genomics Collaboratives, contact innovation@mednax.com.


Genomics Collaborative Leaders

Wesley Gifford, MD, PhD
Pediatric Hospitalist Service Medical Director

Alaska Neonatology Associates
Anchorage, AK

Dr. Gifford received his medical degree and doctorate in neuroscience from the University of California San Diego as part of the Medical Scientist Training Program. He completed his doctoral research at The Salk Institute of Biological Studies, with a focus on neurodevelopmental biology, stem cell research and genome sequencing technology. He completed his pediatrics clinical training at the University of Washington/Seattle Children’s Hospital.

Highlights from Dr. Gifford’s genetics research include contributions to seminal work at The Scripps Research Institute, the Salk Institute and the California Institute for Regenerative Medicine. He has extensive experience in sequencing technologies, including tissue/source considerations, sample harvesting, library generation and the bioinformatics pipeline.

 

Anthony C. Rudine, MD, MBA
Neonatologist

Pediatrix Medical Group of Texas
Austin, TX

Dr. Rudine, board certified neonatologist, is the Director of Research for Neonatology, Founding Medical Director of the Neurocritical Care Nursery, as well as an Adjunct Clinical Assistant Professor of Pediatrics with Texas A&M Health Sciences Center. His current focus is the development of a state-of-the-art neurosciences and genomics research program. Dr. Rudine also sits on the Research Board of the Mother’s Milk Bank at Austin, where he hopes to advance genomic evaluation of donor breast milk.

Dr. Rudine is a site-investigator and/or co-author of multiple funded, current clinical and translational science studies, including a gene sequencing trial using cord blood mononuclear cells to predict risk for future neuropsychiatric disease. His previous research at the University of Pittsburgh School of Medicine as an Assistant Professor of Pediatrics and Clinical & Translational Science led to the generation of pilot data examining genomic and nongenomic differences in responses to dexamethasone and betamethasone, as well as proteomic evaluation of lipid rafts. Additional novel data was obtained using miRNA seq in murine neural stem cells, to determine the impact of steroids on miRNA. This work has led to a current funded National Institutes of Health (NIH) study.

 

Tanya Sorensen, MD
Maternal-Fetal Medicine Specialist

Corporate Medical Director
Obstetrix Medical Group of Washington
Seattle, WA

Dr. Sorenson, a board certified maternal-fetal medicine (MFM) specialist, serves as the Executive Medical Director for Women’s Services at Swedish Health Services, co-leading the Women and Children’s Institute. She also serves on the Providence St Joe’s Women and Children’s Leadership Council and leads their MFM focus group.

Dr. Sorensen is a Clinical Professor at the University of Washington. She serves on the Swedish Health Services Board of Trustees and the Rivkin Center for Ovarian Cancer Board. In addition, she is a member of the Scientific Advisory Board for the Institute for Systems Biology.

A clinical researcher, Dr. Sorensen has published over 65 articles in peer reviewed journals as well as giving numerous presentations. She continues to be interested in complications of pregnancy and predictors of adverse outcomes and in population health and health outcomes.

 

Jeroen Vanderhoeven, MD
Maternal-Fetal Medicine Specialist

Obstetrix Medical Group of Washington
Seattle, WA

Dr. Vanderhoeven is a clinical maternal-fetal medicine specialist with a background in bench research. He worked in sequencing technology and cell culture with a New York-based nonprofit research group prior to pursuing a career in medicine. During his fellowship in maternal-fetal medicine at the University of Washington, Dr. Vanderhoeven was active in bench research, examining cell-signaling of infection and inflammation influencing membrane rupture and pregnancy outcomes.

Dr. Vanderhoeven serves as site primary investigator or co-investigator for a number of clinical research trials and has 13 peer reviewed publications. He maintains an ongoing interest in translational research and obstetric health outcomes. 

 

Topics: Maternal-Fetal Medicine, Patient Care, Pediatric Cardiology, Quality & Safety, Research, Neonatology, CREQS, Pediatric, General, Newborn Nursery, Developmental Pediatrics , Careers, Technology/AI, Pediatric & Newborn Infectious Disease, OB Hospitalist, Neonatal Intensive Care, OB/GYN, Prenatal, Newborn