A work out of science fiction, humans could soon be engineered to be faster, stronger, and smarter. In China, genetically-modified babies are already a reality. Just last November, a pair of genetically-altered twins were born from two modified embryos. While the prospect of ‘designer babies’— children tailored for optimal intelligence, fitness, and good looks— looms ahead surreal, the newness of the field and its current capabilities renders them unfeasible. In contrast, current DNA analysis technology has the capacity of diagnosing genetic diseases with high fidelity. Combined with the CRISPR gene-editing technology, these mechanisms have the potential to diagnose and even cure previously untouchable chronic diseases— especially in the cases of newborn children, who are most receptive to gene therapy treatments.
While it is unquestionable that newborns should be treated of debilitating genetic diseases from a beneficence standpoint, in other instances, as with terminal diseases not yet curable by contemporary gene therapy, the prospect of an eventual deterioration in health casts a looming shadow on patients and their families.
Different from other gene therapy-related projects, this project aims to tackle not the ethics of broad gene therapy itself but more specifically the the use of DNA sequencing to diagnose patients.
DNA sequencing today can diagnose diseases to near-absolute certainty and minute margins of error. While diagnosing curable diseases early-on is ideal, when faced with diseases that are not only incurable, but late-onset— a quality of life is bestowed, then stripped later on— like Huntington’s, the knowledge of a future debilitating disease can take heavy emotional tolls on families.
Through bioethical principles, this project will explore the ethicality of DNA-diagnostics and establish a general system as to how children should be diagnosed through genetic means. Should newborn children be diagnosed for genetic diseases?
UN Sustainable Development Goal: #3, Good Health and Well-being
DNA-diagnostics is a component of this Sustainable Development Goal because it influences individuals physically through medical conditions as well as emotionally through their overall mental health.
Current Procedures— The “BabySeq Project”:
“The BabySeq Project is a first-of-its-kind randomized clinical trial designed to examine how best to use genomics in clinical pediatric medicine by creating and safely testing methods for integrating sequencing into the care of newborns. The study has enrolled 325 families, 257 from the well baby nursery at BWH and 68 from the Neonatal Intensive Care Unit at BCH. Each infant was randomized (50:50) to receive genomic sequencing or to a control group…
… This report contains information about known pathogenic or likely pathogenic (i.e., disease-causing) variants associated with childhood-onset conditions identified in the infant…
… In order to monitor the long-term impact of the genomic information returned to families, parents enrolled in the study are asked to complete four surveys over the course of the first year of enrollment. These surveys ask questions about how parents have been feeling, their family relationships, genetics knowledge, and the perceived utility of the information they receive. We are examining if there are marked differences between the families who receive genomic information and the families who receive standard of care…”
Read more, https://www.genomes2people.org/research/babyseq/
DNA Analysis Success Story, The Stetsons:
“Within 24 hours of giving birth to a healthy baby girl, Lauren Stetson grappled with a dilemma: whether to enroll her newborn Cora in a study that would test the baby’s DNA and potentially foresee health issues that her parents might not otherwise discover
Stetson, recovering from childbirth and just getting to know her second baby, was distracted. But her husband, Kyle, a technology enthusiast, listened intently, and they talked it over.
The researcher counseled the Stetsons on privacy concerns around genome testing and reminded them they were making a decision their grown daughter could very well disagree with. Unlike most of the families given the choice, the Stetsons said yes — intrigued by the possibility that the exhaustive information gleaned from their daughter’s genes might one day help her.
The Stetsons received clear, immediate and actionable information to help Cora. In contrast, 90 percent of the families whose children had their DNA tested found out they did not carry a genetic risk that posed a health threat in childhood, according to a study reported Thursday in the American Journal of Human Genetics.
Their daughter had a genetic enzyme deficiency that, if left untreated, could cause developmental delays and vision problems. Normally, the deficiency is picked up in standard newborn screening, when blood from a heel prick is analyzed for dozens of disorders. But because Cora’s case was borderline and there was no family history, it was missed in the routine screening. Today, she is a normal, happy two-year-old with a simple vitamin regimen to keep her healthy.”
Read more, https://www.washingtonpost.com/national/health-science/sequencing-newborn-babies-dna-raises-more-questions-than-it-answers/2019/01/03/3a7c31c2-0ed9-11e9-84fc-d58c33d6c8c7_story.html?noredirect=on&utm_term=.21ae8cd542c4
Dr. John Roder’s, a world-renowned molecular biologist, story about living with Huntington’s:
Documentary: “Do You Really Want to Know”
“Using interviews and dramatic recreations, the film recounts the stories of three families who carry the gene for Huntington’s disease, a neurodegenerative illness which is the result of a genetic abnormality, whose symptoms typically appear in mid-life. Members of each featured family have undergone predictive testing to learn whether or not they have inherited the gene that causes the disease, and they each describe the impact that testing has had upon their lives.”
Bioethical Principles: Should newborn children be diagnosed for genetic diseases?
- Beneficence: health care providers should only act in ways that benefit the patient
- Children can be cured of diseases, which negatively influence quality of life
- DNA analyses, even if not used to treat patients themselves, significantly advances modern gene-therapy efforts via data collection, patterns, etc.
- Positive feedback loop: more genetic diseases become curable, helping more children
- Read about it: https://www.sciencedaily.com/releases/2018/08/180815171100.htm
- Non-maleficence: no act should be taken intentionally that will cause harm or suffering
- Emotional weight of coming to terms with incurable, terminal diseases.
- Daunting issue for newborns and parents. Hours after giving birth, a family must tackle a critical issue of whether to have their child diagnosed, which could very well change the course of their lives.
- Autonomy: rational individuals are able to make decisions that are best for themselves and therefore should be allowed to do so
- Legal guardians should be given full consent (Competency, Adequate Disclosure, Adequate Understanding, Voluntary Decision, Consent) and control over their children’s data
- Justice: allocation of healthcare resources ought to be FAIR
- Equity: Cost factor— current gene diagnoses are subsidized by the federal government as seen with “BabySeq,” however, as practices standardize, DNA analyses may be built into health plans, marginalizing lower-income families. In addition, medicine costs to treat those diseases may take up immense resources.
- Equality/Responsibility: Health as a human right— DNA sequencing, especially at more technologically advanced levels in the future, can vastly impact the health of entire generations of children. Regardless of cost, this benefit to live with a higher quality of life is unalienable and thus, a public good. Public goods ought to be subsidized by the more well-endowed, possibly via the government
Unsurprisingly, many of the bioethical issues confronted by real-world entities like BabySeq parallel the teachings and analyses of this GOA course. As portrayed in the anecdotal story above for “Cora,” the researchers at BabySeq made sure to carry out the full standards of autonomy by fully informing patients, establishing an adequate understanding, and allowing the parents of the child to decide whether to carry out the operation or not. Many new parents understandably, having just given birth, declined the unknown operation, and the research team respected their values.
Assuming that future practices continue to be carried out in this responsible manner, using DNA analyses for babies is a staple. The tremendous improvements to qualities of life through treatments as well as the contribution to the still relatively-new field of gene therapy are tremendous.
The main area of contest in this issue surrounds those who may receive unfavorable news, of diseases or conditions incurable with modern technology. Action regarding this issue is spread.
On the one hand, critics of human gene therapy emphasize the unquantifiable value of human life. Not only can gene editing open up a world of ‘designer babies,’ in which only the rich are able to optimize their children, but in-vitro testing also risks lives. These are lives of undetermined potential, of which one could be the next Hemingway or Elon Musk. Innocent and not yet conscious, each and every life has the fundamental right to flourish, unhindered by the havoc of flawed gene editing.
Conversely, supporters of gene therapy—including Dr. George Daley, Dean of Harvard Medical School—argue just as vehemently. They claim that it is humanity’s duty to tap into this undiscovered reservoir. Gene editing in humans may not only accelerate the development of genetic-disease therapies, but it may also lead to critical breakthroughs in areas like clean energy and environmental conservation—arguably just as, if not more, important. World hunger could quite literally come to an end by attaining the pinnacle of gene-editing technology.
At the Boston Children’s Hospital where I interned, we have sought to maintain a nuanced position between these perspectives. Especially with gene-therapy being so new, we have carefully constrained the analyses and treatment methods we used. Currently, we are diagnosing trackers only for curable diseases. While the trackers for diseases like Huntington’s do exist— we believe that this careful, self-scrutinizing process is key to responsible gene-therapy, gene-editing, and DNA analysis in the future.
What you can do:
Stay informed! Follow scientific, societal, and legal developments on the issue! Reach out to members of research teams with any questions (they are happy to answer them!)
While this project focused more so on DNA analyses rather than gene-editing as a whole, in reality, the fields are intimately connected. Genetic data gathered from infants can be used for all aspects of the field.
It is crucial that we, as a society, meticulously guide the growth and progress of this field. Genetically-modified super-humans are not yet a reality, but they are far from science-fiction. Just last November, a Chinese researcher was arrested for genetically editing two human embryos, which were later born to twin girls. Along with rapid technological growth comes a rapid degradation of values. We must remember our morals and life truths, and live as responsible citizens in this ever-changing world. Stay informed, stay alert!
Belluz, Julia. “Is the CRISPR Baby Controversy the Start of a Terrifying New Chapter in Gene Editing?” Vox, Vox, 22 Jan. 2019, www.vox.com/science-and-health/2018/11/30/18119589/crispr-gene-editing-he-jiankui.
Johnson, Carolyn Y. “Baby DNA Tests Raise as Many Questions as Answers.” The Washington Post, WP Company, 3 Jan. 2019, www.washingtonpost.com/national/health-science/sequencing-newborn-babies-dna-raises-more-questions-than-it-answers/2019/01/03/3a7c31c2-0ed9-11e9-84fc-d58c33d6c8c7_story.html?noredirect=on&utm_term=.044c194be0fc.
Paikin, The Agenda with Steve. “Living with Huntington’s Disease.” YouTube, YouTube, 6 Feb. 2013, www.youtube.com/watch?v=TkfVnzavREw&feature=youtu.be.
“Should All Babies Have Their Genomes Sequenced?” ScienceDaily, ScienceDaily, 15 Aug. 2018, www.sciencedaily.com/releases/2018/08/180815171100.htm.
“The BabySeq Project.” G2P, www.genomes2people.org/research/babyseq/.
About the Author:
High School Senior at the Buckingham Browne & Nichols School in Cambridge, MA.
Enjoys fencing, violin, debate, writing, sleeping, everything.
Has a fantastic dog.