Full genome exams for newborns: An issue of ethics and equity

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  Quantumrun Foresight
• June 15, 2023

Insight highlights

Newborn genetic screening allows for the early detection of disorders, improving health outcomes and potentially leading to a shift from disease treatment to prevention in healthcare. The implementation of this technology, however, raises ethical concerns such as potential genetic discrimination and the necessity for informed consent and data privacy. The wide-scale application of newborn genetic exams could lead to more personalized medicine, increase the demand for genetic counselors, and significantly inform public health decisions.

Full genome exams for newborns context

Newborn screening (NBS) refers to laboratory examinations administered to infants to identify various genetic disorders. These tests are generally carried out using a blood sample drawn from a heel prick, typically when the baby is two or three days old. In the US, screening newborns for specific genetic diseases is compulsory, but the precise list of diseases varies from state to state. These screenings aim to detect conditions that can be treated or prevented more effectively if identified early.

The BabySeq Project, a collaboration between Brigham and Women's Hospital, the Broad Institute, and Harvard Medical School, conducted a randomized clinical trial to assess the medical, behavioral, and economic impacts of comprehensive genomic sequencing in newborns. Unexpected monogenic disease risks were discovered in 11 percent of seemingly healthy newborns. In 2023, at least 200,000 newborns in England are slated to have their genomes sequenced. Genomics England, a governmental initiative initially developed to study genetic diseases and cancer in adults, is set to launch a pilot program to gather a diverse sample of newborn DNA from across the country.

However, according to a 2021 study by researchers in Australia, incorporating genomics into NBS brings about added complexities and risks. The most commonly mentioned include the necessity for education and informed consent, potential infringement on a child's future autonomy, the possibility of genetic discrimination, reduced participation in traditional NBS programs, as well as costs and data storage.

Disruptive impact

The early detection of genetic disorders can significantly improve the overall health outcomes of children. As a result, the child may lead a healthier life, reducing the disease burden on both the individual and the health care system. In addition, the ability to predict future disease risk could inform personalized preventative care measures, optimizing the child's long-term health.

In addition, genetic screening at birth could also have a profound societal impact. It could help shift our healthcare paradigm from treatment to prevention, significantly lowering healthcare costs in the long run. The earlier a condition is identified, the cheaper it is to manage. However, there could also be potential negative implications, such as genetic discrimination, where individuals might face differential treatment based on their genetic makeup. This development could impact insurance and employment, worsening income inequality.

Finally, the increased usage of genetic screening at birth may drive advances in genetic research, leading to a deeper understanding of genetic diseases and potentially sparking the development of new therapies. However, this could also create challenges in data privacy and ethical considerations. For example, questions may arise about who should have access to an individual's genetic information and how it should be used. Genetic screening is also being increasingly offered at the embryo stage, which is already being criticized by some scientists as inaccurate and questionable.

Implications of full genome exams for newborns

Wider implications of full genome exams for newborns may include: 

• More informed life choices for individuals. For example, they might make lifestyle or dietary modifications to mitigate disease risk.
• An increase in the abortion of infants who are predicted to exhibit serious medical impairments or deformities upon birth. Should genetic testing of this kind be made widely available to prospective parents, then countries could gradually see nationwide decreases in the rates of babies born with genetic diseases. 
• Potential discrimination in insurance. Carriers may charge higher premiums or deny coverage based on genetic predisposition to certain diseases.
• Governments creating regulations to protect genomic information use.
• Demand for genetic counselors increasing significantly to guide parents in managing potential congenital disease risks.
• More personalized medicine, as treatments could be tailored based on an individual's unique genetic makeup.
• A risk of stigma and discrimination based on genetic information. For instance, individuals with certain genetic conditions could face social and employment exclusion.
• Potential misuse of genetic editing technologies to create "designer babies" or exacerbate social inequities.
• These tests significantly informing public health decisions and strategies, leading to better population health management and possibly changing demographic trends related to genetic disorders.
• Advancements in embryo genetic screening, gene editing, and genetic therapies opening up more opportunities for biopharma and biotech firms.

Questions to consider

• If you’re a new parent, did your newborn undergo genetic screening?
• How else might newborn genetic exams affect the future healthcare industry?