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Genome Sequencing of Newborns Can Save Lives and Lower Medical Costs

August 4, 2021 by Alexa Hornbeck
Genome Sequencing of Newborns Can Save Lives and Lower Medical Costs

Over the last decade evidence has shown that whole genome sequencing saves lives, but a new study from researchers in California shows how genome sequencing for newborns in intensive care units can also save money.

“We now know there are more than 6,000 genetic diseases, but that number changes every day. What we’ve discovered, which was completely unheard of even 10 years ago, is that these diseases are massively underdiagnosed,” said Stephen Kingsmore, president and chief executive officer, Rady Children’s Institute for Genomic Medicine.

According to the study, genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive care units. In the U.S. there are an estimated 1 in 10 Americans affected by rare diseases, which the National Institutes of Health defines as any disease which affects fewer than 200,000 people. 

Rare diseases, however, can take between five to seven years to diagnose from the onset of symptoms, according to researchers. That is why genome sequencing, which breaks down a unique DNA sequence to understand the unique DNA pattern, can provide rapid results to achieve a rapid diagnosis and get individuals with rare diseases into treatment more quickly. 

“We can now decode the entire human genome and explore that across 6,000 genetic diseases in 13.5 hours, and it costs on a research basis $700,” said Kingsmore.

Project Baby Bear, the recent study from Rady Children’s Institute for Genomic Medicine in San Diego, California, shows how whole genome-sequencing-based rapid precision medicine interventions can improve clinical outcomes and reduce the costs of care in acutely ill Medi-Cal beneficiaries who are less than one year old.

From November 2018 to May 2020, researchers enrolled 184 infants in five California children’s hospitals who were within one week of hospitalization or had developed an abnormal response to therapy.

“We put genome sequencing into five very different ethnic, racial, and socioeconomic regions of California,” said Kingsmore.

Of the infants enrolled in the study 40%, or 72 infants, received a diagnosis by rapid whole genome sequencing that explained their admission in the median time of three days, and for 32%, or 58 infants, the genome sequencing led to changes in medical care.

“By decoding a baby’s genome and doing it as fast as you possibly can, you are able to decrease the cost of care,” said Kingsmore. 

Testing and precision medicine typically costs $1.7 million, but the intervention led to a $2.2-2.9 million in cost savings and reduced net health care expenditures for infants in regional ICUs in California. 

“We saved $20,000 for every child we sequenced,” said Kingsmore.

To ensure every infant on Medi-Cal would have the option to undergo genome sequencing in California, Assembly Bill 114, the Rare Disease Sequencing for Critically Ill Infants Act, aims to make rapid whole genome sequencing testing qualify as a Medi-Cal covered benefit. 

“The real problem is disparity, non-Medicaid and the folks who are dependent on government-funded health systems don’t have access to this, and the other 50 states, and we need to fix that disparity,” said Kingsmore. 

Kingsmore said Medicaid covers about an average of 50% of the births in the country and estimates that genomic sequencing would save the lives of over 10,000 children per year in the Medicaid system alone. 

The Rare Disease Diversity Coalition, which consists of over 200 experts, researchers, patients, and advocates in five working groups, is working to address equitable access to genomic sequencing especially for communities of color and those living with a low socioeconomic status. 

Last February, the coalition launched an action plan to make observable and measurable improvements in genomic sequencing over the next two years through provider, patient and caregiver education, government regulation and policy, and research and clinical trials.

Linda Goler Blount, president of the Black Women’s Health Imperative, said the Food and Drug Administration has established a plan to help diversify research and the ability of providers to diagnose rare diseases but needs to better enforce it. 

“We’ve got a great opportunity to look at how we are evaluating therapeutics, evaluating how they are paid for, and how we communicate the availability of genetic testing, which is not universal. The diagnostic journey should not be that long,” said Blount.

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