Should Everyone Have Their Genome Sequenced at Birth?

Genomic sequencing at birth has the potential to shift the healthcare system from reactive to preventive and save countless lives in the process, but healthcare systems aren’t ready for universal implementation of these tests, according to a panel discussion at the World Economic Forum Annual Meeting in Davos, Switzerland.

Opening the discussion with the question of whether every infant should have their genome sequenced at birth, the panel members agreed that there are other challenges that should be met before being able to address that question.

Who owns the data?

If an infant is being sequenced at birth, is it their data, their parents’ data, or the healthcare providers’ data? Matt Hancock, Secretary of State for Health and Social Care in the United Kingdom, and Jay Flatley, executive chairman of Illumina, both agreed that the data should be controlled by the patients or their guardians.

In the United Kingdom, explained Hancock, the primary care provider is legally the controller of health data, but conceptually, the patients or their guardians are in control. Consent must be at the heart of it, he said. Flatley added that the patient needs to have the right to remove the data from public storage or wherever else the information is held.

Who deciphers the results?

“It’s a collection of all of us,” explained Flatley. It needs to start with great data, and then the industry and software providers need to be able to read the gene variations accurately. “As we sequence more and more people, data becomes easier and easier to analyze because we have better statistical power,” he added.

Jodi Halpern, MD, PhD, professor of bioethics, University of California Berkeley, emphasized the importance of pre- and post-test counseling to understand sequencing and its results, which is underresourced in the United States. According to Halpern, there are currently an estimated 3000 genetic counselors in the country, and as sequencing becomes more prevalent, the demand will continue to increase. Without proper counseling, patients or their guardians can be left feeling anxious or in distress, because although genome sequencing can produce actionable information that can help a patient, it also leaves them with information that can’t be acted on.

The impact of this information on insurance also has to be carefully regulated, said Halpern. While a patient can’t be dropped from health insurance based on genetic information, it can influence long-term care/disability.

Who pays for these tests?

With a universal, tax-payer funded healthcare system, UK tax payers are footing the bill when someone is already ill and gets their genome sequenced, said Hancock. For healthy individuals, the health system is implementing genomic volunteering, where sequencing is available to those willing to pay.

While the United States is not yet at a point of widespread coverage of these tests, Flatley explained that it will happen over time. Individual payers will begin to adopt these tests as the economics continue to improve and costs are driven down to about $100, which is the goal, as well as when the health outcome benefits become evident, he said. Currently, the All of Us Research Program will cover the costs of sequencing for 1 million people over the next 5 years as part of a long-term, longitudinal research study.

Who should these tests begin with?

Hancock explained that there has already been evidence of significant positive impact of genomic sequencing when a baby is already ill. He cited research coming from Cambridge University hospitals that found that whole genome sequencing of ill babies changed clinical treatment in 75% of the cases.

Specifically, the panel members agreed that genomic sequencing has obvious benefits for rare diseases and cancer. According to Hancock, the United Kingdom will be sequencing the genomes of all children with cancer in the future.

Similarly, rare disease diagnoses often take years, and genomic sequencing has the ability to accelerate a diagnosis and correct treatment.

“While each disease individually may be rare, collectively this is a very significant percentage,” said Flatley. “It’s about 4% of children that are born with some type of rare variation that parents as some sort of disease.”

According to Flatley, there are 6 categories where there is an advantage to having genomic sequencing at birth:

1. Identifying what dominant mutations an infant has that put them at risk for early-onset childhood diseases
2. Identifying recessive mutations that won’t impact the patient early on, but can impact their offspring
3. The emerging area of polygenic risk scores, where researchers can look across the genome at thousands of variants and produce powerfully predictive algorithms of a patient’s chance of developing a disease
4. Pharmacoeconomics and understanding how drugs will metabolize and how the patient will react to them
5. The impact on the parents. For example, if a baby tests positive for the BRCA gene mutation, it can have an impact for the mother or father if they have not been tested
6. A repository of phenotypic information and medical records of all tested infants over time that would replace dollars spent on genomic research

Should it be required?

There might be a point in public health where the genome is so effective and powerful that health systems will want to discourage patients from being able to opt out, except for strong or religious reasons, said Halpern.

However, according to Hancock, while setting norms and expectations, giving people the capacity to make decisions correctly, and using behavioral concepts can guide people in the right direction, “going further than that and requiring it is a whole different and much more problematic step and undermines the whole concept of consent, which should be at the heart of this.”