Newborn Genomic Testing: Promise, Perils, and Ethical Dilemmas

Newborn genomic testing, offering the potential to identify genetic risks for conditions such as rare cancers, dementia, and other diseases early in life, is emerging as a significant medical advancement. This technology, however, also presents complex ethical and societal questions.

Currently, Australian newborns are offered a heel prick test within 72 hours of birth, identifying 32 manageable conditions. This test, known as Newborn Bloodspot Screening, detects biochemical markers and genetic signals but does not sequence DNA.

Genomics Australia and the Shifting Landscape

In July last year, the federal government established Genomics Australia to explore integrating DNA mapping into healthcare. Eleven recommendations on the use of genomics in newborn screening will be presented to state health ministers later this year. Unlike the existing heel prick test, genomics could flag risks for less treatable conditions, including cancer and dementia.

Professor Zornitza Stark, a clinical geneticist and co-lead of BabyScreen+, stated that the central dilemma is whether individuals would choose to know their disease risk profile from birth.

Juanita Hughes, diagnosed with frontotemporal dementia in her late 50s, expressed gratitude for not having known her prognosis earlier, suggesting that such knowledge could be a lifelong burden, particularly if the condition is untreatable. She noted that early knowledge is beneficial primarily for treatable diseases where lifestyle changes can postpone onset.

Ethical and Social Implications: A Closer Look

Genomics Australia is allocated $30 million over four years to investigate genome mapping integration, including personalized cancer care and assessing the risks and benefits of providing parents with their child's full genome map. However, several ethical concerns have been raised:

Privacy and Consent

Questions arise regarding a newborn's consent for data generation with lifelong implications, and the security of stored genetic data. The implications of storing and using this highly personal information over decades are profound.

Insurance Discrimination

There is concern that risk profiles could affect life insurance eligibility or lead to increased premiums. The government plans to introduce legislation to ban the use of adverse genetic test results in life insurance underwriting, but this does not extend to health insurance.

Over-diagnosis and Over-treatment

Genomic tests may detect genetic changes that do not cause disease, potentially leading to unnecessary monitoring and treatments, creating "patients-in-waiting." This could result in undue stress and medical interventions without clear benefit.

Information Burden for Parents

The complex information and choices surrounding genomic testing shortly after birth could create confusion and uncertainty for new parents. Navigating these decisions during an already demanding period could be overwhelming.

Professor Stark highlights the consensus that newborns should primarily be screened for severe, early-childhood onset, and treatable conditions. BabyScreen+ currently screens for 500 additional treatable conditions, avoiding assessment for diseases like cancer or dementia in newborns. Stark also voiced concerns about private medical providers potentially monetizing unstandardized genomic testing, leading to a lack of appropriate genetic counselling.

Dr. Jane Tiller, an advisor on public health genomics at Monash University, advocates against universal widespread newborn genomic screening due to cost, ethical, and public health reasons. She emphasizes the principle of testing for "the right things at the right time for the right reason," citing Huntington's disease as an example where predictive testing is ethically discouraged in symptom-free children.

She also expressed fears that widespread testing could negatively impact the uptake of the existing, valuable newborn screening program.

Success Stories and Potential Benefits

Despite concerns, genomic testing has demonstrated significant benefits in some cases:

Early Detection of Rare Cancers: Freddie Underhay (UK)

Genomic mapping revealed hereditary retinoblastoma, a rare eye cancer, which was not detected by standard tests. Early detection allowed for prompt treatment, minimizing impact on his vision.

Life-Saving Diagnosis: Giselle (Australia)

Through the BabyScreen+ study, Giselle was diagnosed with familial hemophagocytic lymphohistiocytosis, a rare and life-threatening genetic disorder. Early detection enabled a life-saving bone marrow transplant.

These cases illustrate the potential for genomic testing to revolutionize healthcare by enabling early diagnosis and intervention for critical conditions. Dr. Swaroopini Thangarajah, a women's health specialist and GP, supports newborn genome testing, believing it could prevent complications and improve quality of life through optimized preventative care for conditions like cardiovascular disease or fatty liver disease.

Impact on First Nations People

Associate Professor Sarah Norris from the University of Sydney notes significant concerns regarding First Nations people, particularly around consent for biological samples and the risk of widening health gaps. Organizations like ALIGN and NCIG are working to ensure testing is safe and culturally appropriate, addressing historical traumas and fears related to child removal. Indigenous governance is deemed vital for data sovereignty rights.

Conclusion: Balancing Potential with Precaution

The debate surrounding newborn genomic testing continues, balancing the immense potential for early disease detection and personalized preventative care against significant ethical, legal, social, and economic challenges. Experts emphasize the need for careful planning, robust safeguards, and a focus on actionable, treatable conditions, particularly allowing individuals to make informed choices as adults regarding less treatable conditions.