Nav: Home

Should all babies have their genomes sequenced?

August 15, 2018

As the cost of genome sequencing decreases, researchers and clinicians are debating whether all newborns should be sequenced at birth, facilitating a lifetime of personalized medical care. But while sequencing the genomes of some infants may be appropriate in specific contexts, genome-wide sequencing of all newborns should not be pursued at this time, and health professionals should recommend against parents using direct-to-consumer genetic sequencing to diagnose or screen their newborns, states the lead article in The Ethics of Sequencing Newborns: Recommendations and Reflections, a new special report of the Hastings Center Report.

Josephine Johnston, director of research at The Hastings Center; Erik Parens, senior research scholar at The Hastings Center; and Barbara Koenig, a professor at the University of California, San Francisco, and director of the UCSF Program in Bioethics who is a Hastings Center Fellow, are co-editors of the special report.

The lead article was written by members of the University of California, San Francisco, Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) Ethics and Policy Advisory Board, composed of researchers and scholars from genomics, clinical medicine, bioethics, and other fields. Their recommendations grew out of a four-year interdisciplinary investigation funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Human Genome Research Institute, two components of the National Institutes of Health, to examine the ethical and policy issues posed by conducting genome sequencing on newborns.

"Genomics is a powerful tool, but the results it returns are still not fully understood and have not been proven to advance health outside of very specific clinical situations," says Johnston. "The recommendations embrace the use of genomics to aid in the diagnosis of sick newborns, but they draw a sharp distinction between that kind of focused clinical use and population screening."

The recommendations appear in " Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies." They include:
  • Targeted or genomic sequencing can be used by clinicians to assist in the diagnosis of a symptomatic newborn. Sequencing these newborns may end the search for a diagnosis, informing medical management.

  • Genome-wide sequencing should not be implemented as a universal, public health screening tool in newborns. Sequencing the entire genome may result in the return of genetic data of unknown or uncertain significance and may not yield actionable results. Results can generate unnecessary distress and require health resources for unneeded monitoring. And the cost of universal genome-wide sequencing would stretch the operating expenses of state-funded newborn screening programs, undermining the effectiveness of their operations.

  • Integrating targeted genome sequencing into newborn screening programs may be appropriate when it is the best way to identify a condition that meets existing screening criteria--it affects a newborn's health, programs are able to fund screening and follow-up care, and effective treatments are available. Targeted genome sequencing may also be appropriate to confirm a diagnosis and provide additional prognostic information after initial screening results.

  • Whole-genome or targeted sequencing should not be integrated into routine infant primary care. In healthy babies, genome sequencing would likely generate undue anxiety and require significant health resources for interpretation and follow-up.

  • Health professionals should recommend against parents seeking direct-to-consumer genome sequencing for either diagnosis or screening of their newborn. The use of DTC genomic testing in children conflicts with clinical and professional guidelines, which limit testing to clinical contexts and for conditions that manifest during childhood. Most testing services also lack sufficient consultation and follow-up to assure accurate interpretation of results.


"Sequencing the genome of every newborn could cause parents to worry needlessly about their healthy baby," says Koenig.

Twelve essays expand upon the recommendations in the lead article, exploring a range of issues. Among the essays:

"Families' Experiences with Newborn Screening: A Critical Source of Evidence" calls for more research on the impact of expanded newborn screening on the lived experience of parents and children. Such studies "will be essential for guiding decisions about the future," write Rachel Grob, clinical professor in the Department of Family Medicine and Community Health at the University of Wisconsin-Madison; Scott Roberts, associate professor of health behavior and health education at the University of Michigan School of Public Health; and Stefan Timmermans, professor of sociology at the University of California, Los Angeles.

"Commercial Interests, the Technological Imperative, and Advocates: Three Forces Driving Genomic Sequencing in Newborns " raises concern about forces, "beyond the desire to implement tests with proven clinical utility, that are fueling interest in genomic sequenc¬ing in the newborn period. These three forces have the potential to be problematic for policy and practice." The authors are Stacey Pereira, an assistant professor at the Center for Medical Ethics and Health Policy at Baylor College of Medicine, and Ellen Wright Clayton, a professor of pediatrics, law and health policy at Vanderbilt University.

"Using Newborn Sequencing to Advance Understanding of the Natural History of Disease" argues that genomic sequencing of sick new¬borns has the potential to bypass the prolonged journey to a diagnosis, improving the medical care of in¬dividual infants. "But sequencing also has the potential to benefit oth¬ers beyond the child whose genome is sequenced and his or her immedi¬ate family. Sequence data from sick newborns will expand medicine's understanding of genetic diseases," writes Ingrid A. Holm, an associate professor of pediatrics at Harvard Medical School.
-end-
The entire report is available for free here.

For more information or to interview Josephine Johnston or Erik Parens, contact:

Susan Gilbert, director of communications
The Hastings Center
845-424-4040 x244
gilberts@thehastingscenter.org

For more information or to interview Barbara Koenig, contact:

Laura Kurtzman, Senior Information Representative
University of California San Francisco
415-476-3163
Laura.Kurtzman@ucsf.edu

The Hastings Center

Related Public Health Articles:

COVID-19 and the decolonization of Indigenous public health
Indigenous self-determination, leadership and knowledge have helped protect Indigenous communities in Canada during the coronavirus disease 2019 (COVID-19) pandemic, and these principles should be incorporated into public health in future, argue the authors of a commentary in CMAJ (Canadian Medical Association Journal) http://www.cmaj.ca/lookup/doi/10.1503/cmaj.200852.
Public health consequences of policing homelessness
In a new study examining homelessness, researchers find that policy such a lifestyle has massive public health implications, making sleeping on the street even MORE unhealthy.
Electronic health information exchange improves public health disease reporting
Disease tracking is an important area of focus for health departments in the midst of the COVID-19 pandemic.
Pandemic likely to cause long-term health problems, Yale School of Public Health finds
The coronavirus pandemic's life-altering effects are likely to result in lasting physical and mental health consequences for many people--particularly those from vulnerable populations--a new study led by the Yale School of Public Health finds.
The Lancet Public Health: US modelling study estimates impact of school closures for COVID-19 on US health-care workforce and associated mortality
US policymakers considering physical distancing measures to slow the spread of COVID-19 face a difficult trade-off between closing schools to reduce transmission and new cases, and potential health-care worker absenteeism due to additional childcare needs that could ultimately increase mortality from COVID-19, according to new modelling research published in The Lancet Public Health journal.
The Lancet Public Health: Access to identification documents reflecting gender identity may improve trans mental health
Results from a survey of over 20,000 American trans adults suggest that having access to identification documents which reflect their identified gender helps to improve their mental health and may reduce suicidal thoughts, according to a study published in The Lancet Public Health journal.
The Lancet Public Health: Study estimates mental health impact of welfare reform, Universal Credit, in Great Britain
The 2013 Universal Credit welfare reform appears to have led to an increase in the prevalence of psychological distress among unemployed recipients, according to a nationally representative study following more than 52,000 working-age individuals from England, Wales, and Scotland over nine years between 2009-2018, published as part of an issue of The Lancet Public Health journal on income and health.
BU researchers: Pornography is not a 'public health crisis'
Researchers from the Boston University School of Public Health (BUSPH) have written an editorial in the American Journal of Public Health special February issue arguing against the claim that pornography is a public health crisis, and explaining why such a claim actually endangers the health of the public.
The Lancet Public Health: Ageism linked to poorer health in older people in England
Ageism may be linked with poorer health in older people in England, according to an observational study of over 7,500 people aged over 50 published in The Lancet Public Health journal.
Study: Public transportation use linked to better public health
Promoting robust public transportation systems may come with a bonus for public health -- lower obesity rates.
More Public Health News and Public Health Current Events

Trending Science News

Current Coronavirus (COVID-19) News

Top Science Podcasts

We have hand picked the top science podcasts of 2020.
Now Playing: TED Radio Hour

Listen Again: The Power Of Spaces
How do spaces shape the human experience? In what ways do our rooms, homes, and buildings give us meaning and purpose? This hour, TED speakers explore the power of the spaces we make and inhabit. Guests include architect Michael Murphy, musician David Byrne, artist Es Devlin, and architect Siamak Hariri.
Now Playing: Science for the People

#576 Science Communication in Creative Places
When you think of science communication, you might think of TED talks or museum talks or video talks, or... people giving lectures. It's a lot of people talking. But there's more to sci comm than that. This week host Bethany Brookshire talks to three people who have looked at science communication in places you might not expect it. We'll speak with Mauna Dasari, a graduate student at Notre Dame, about making mammals into a March Madness match. We'll talk with Sarah Garner, director of the Pathologists Assistant Program at Tulane University School of Medicine, who takes pathology instruction out of...
Now Playing: Radiolab

What If?
There's plenty of speculation about what Donald Trump might do in the wake of the election. Would he dispute the results if he loses? Would he simply refuse to leave office, or even try to use the military to maintain control? Last summer, Rosa Brooks got together a team of experts and political operatives from both sides of the aisle to ask a slightly different question. Rather than arguing about whether he'd do those things, they dug into what exactly would happen if he did. Part war game part choose your own adventure, Rosa's Transition Integrity Project doesn't give us any predictions, and it isn't a referendum on Trump. Instead, it's a deeply illuminating stress test on our laws, our institutions, and on the commitment to democracy written into the constitution. This episode was reported by Bethel Habte, with help from Tracie Hunte, and produced by Bethel Habte. Jeremy Bloom provided original music. Support Radiolab by becoming a member today at Radiolab.org/donate.     You can read The Transition Integrity Project's report here.