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The ethics of genetic testing for children

Article at a Glance
  • Newborn genetic screening (heel prick tests) is standard in most developed countries. These tests aim to identify children at risk of serious and potentially fatal diseases and conditions. Testing can help facilitate immediate and potentially life-saving medical intervention and effective preventive measures.
  • Most common genetic tests outside of the heel prick tests have little, if any, relevance in childhood.
  • The American Society of Human Genetics and the American College of Medical Genetics, as well as numerous other health organizations have issued ethics guidelines around genetic testing. These strongly suggest that genetic testing for children should only be done when there is a timely medical need, such as when it could confirm a diagnosis in a symptomatic child, allow for adequate medical monitoring, or enable preventive treatment or behavior modification in a child at risk for a genetic condition that will occur in childhood.
  • All other testing, including for adult-onset diseases, should, according to ethical guidelines, be delayed until the child can make the decision for themselves (especially for carrier status).
  • Genetics research is always evolving, meaning that we may have a clearer understanding in the future of how modifying specific behaviors in childhood might reduce the risk of adult-onset conditions based on a child’s genetic profile.
Genetic testing for kids

Note: this is an opinion piece. The views expressed here are those of the author and do not necessarily reflect the views of the Gene Food editorial staff. 

Genetic testing for kids is something of an ethical minefield. Most kids don’t want to know their risk of Alzheimer’s disease. There are, however, some standard genetic tests carried out for most newborns long before they are old enough to give meaningful consent.

In this post, I look at the ethical considerations of genetic testing for kids. In the second post in this series, I discuss which genes matter most and the genetic tests that could prove useful for kids.

Genetic testing for kids – medical ethics

Since we first started linking specific genes to various health conditions there’s been a fierce debate over who should be tested for what, and when. This ethical debate is particularly fractious when it comes to genetic testing for kids. So much so that in 1998 the World Health Organization laid out their Proposed International Guidelines on Ethical Issues in Medical Genetics and the Provision of Genetic Services.

These guidelines stated that:

Every genetic test should be offered in such a way that individuals and families are free to refuse or accept according to their wishes and moral beliefs. All testing should be preceded by adequate information about the purpose and possible outcomes of the test and potential choices that might arise. Children should only be tested when it is for the purpose of better medical care.

In subsequent years, the general consensus has remained that genetic testing is appropriate if it could help to confirm a medical diagnosis in a symptomatic infant or child. Testing may also be appropriate if it is intended to enhance medical monitoring, support preventive health strategies, or enable timely and effective treatment in a healthy child who is at risk of a genetic condition. For example, a child may be tested for TPMT gene function to help predict their likely response to specific pharmacogenic interventions to treat acute lymphoblastomic leukemia.

When not to test kids

In most cases, medical ethicists consider it inappropriate to test healthy children when such tests don’t seem to offer an immediate or timely medical benefit. Why? Well, for one thing, most children are unable to understand the potential consequences of knowing their genetic predisposition for diseases and conditions. What use is it to know that you have a slightly higher risk of developing a disease in fifty or more years? And, if you have a slightly higher (or lower) risk of a condition that wouldn’t affect you until adulthood, does it matter if you know when you’re a pre-teen? Especially if the best ways to reduce your risk of this condition is simply to lead an active, healthy life.

There are very few conditions or diseases that are known to be affected by what we do when we’re children. Melanoma is one, with sun exposure in childhood linked to a higher rate of skin cancer as an adult. Type 2 diabetes is another, with children who are overweight or obese having a higher risk of developing the condition in childhood and as adults.

Does this mean that children should be tested for genetic variants that would increase their risk of these diseases? While some might make that argument, it seems rather pointless. After all, if you care enough about the wellbeing of your child to sign them up for genetic tests, you’re probably already protecting them from damaging sun exposure and encouraging them to be active and eat well.

What about other genetic tests? Well, it does seem smart to have your child tested at an early age for their propensity to develop some conditions as this could expedite diagnosis and treatment, thereby improving their odds of leading a healthy life. For example, genetic testing can help identify a child’s risk of developing familial hyperlipidemia, hereditary hemochromatosis, or multiple endocrine neoplasia.

There’s also an argument to be made for genetic testing in childhood for conditions such as adult onset blindness. That’s because children at a high risk of blindness could then engage in anticipatory training that may well enhance their quality of life as adults. Genetic testing may also help predict the likelihood of a child becoming a smoker or engaging in other addictive behaviors, which might help health care workers target preventive health campaigns. Such use of genetic testing could, however, run the risk of stigmatizing and stereotyping children, while neglecting proper health education in those not deemed ‘at risk’.

Genetic testing may also be appropriate for older parents, given that the risk of chromosomal abnormalities is higher in birth parents over the age of 34, while sperm DNA fragmentation is higher after the age of 30, affecting both fertility, miscarriage risk, and newborn health. Indeed, dominant genetic mutations, i.e. those resulting from a single, new, genetic defect, are more likely to occur in a pregnancy resulting from sperm from an older individual.

Knowing these risks can help motivate healthy behaviors to reduce sperm DNA fragmentation and encourage reproductive health. Once a child is born, however, it’s essential that parents consider the possible ramifications of genetic testing on that child.

The psychological effects of genetic testing in kids

The relative newness of genetic testing for kids means that there is little robust research looking at the psychological effects of knowing or not knowing genetic risk factors for various diseases.

Interestingly, one eight-year follow-up study of adolescents screened for carrier status for Tay Sachs disease showed that the teens generally felt good about having been screened. Despite almost half (46%) of those determined to be carriers feeling worried after receiving their results, the majority reported feeling indifferent to that knowledge eight years later.

Research into the emotional impact of genetic testing has also thrown up some surprises. For example, researchers reported negative psychological effects in people who found out that they weren’t at risk of Huntington disease, while those who were almost guaranteed to develop the condition fared well with the news if properly prepared before testing.

Adults at risk of genetic diseases don’t always want to know their risk level. Indeed, fewer than 20% of adults at risk for Huntington disease access genetic testing, despite it having been widely available for over a decade. More people are likely to want to know their risk, however, for conditions where their behavior could have a significant impact, such as hereditary cancer. As such, parents may want to limit testing to conditions with modifiable risk factors and consider the possibility that their child might grow into one of those adults who doesn’t want to know their risk of any diseases or conditions.

If you’re thinking about genetic testing for kids, consider whether receiving specific or ambiguous information about health risks could:

  • Create unnecessary and regrettable psychological stress or distress
  • Alter the child’s self-image
  • Affect the child’s relationship with siblings, other family members, friends, and so forth
  • Lead the child or parent to engage with unproven and potentially harmful health behaviors
  • Inadvertently promote unhealthy behaviors (such as smoking) due to a perceived invulnerability
  • Encourage fatalistic thinking (that the child has no control over their health, so what does it matter).

Some companies allow parents to set limits defining what kind of information their child can access about their own health. For instance, a child may be able to access trait characteristics from an early age but have to wait until they are 18 to view genes associated with the risk of adult-onset diseases such as Alzheimer’s or Huntington’s.

The psychological impact of genetic testing isn’t just limited to the child, of course. Some research found, for instance, that depression scores were significantly higher in the parents of children who tested positive for genetic risk factors for familiar adenomatous polyposis. Children who tested positive and who had affected mothers also had higher depression scores, and regardless of results, children with affected mothers had significantly higher anxiety scores after testing (R). Some individuals also find that genetic testing can affect their relationship with their partner, especially if parents feel to blame for their child’s inherited risk factors.

As a parent or caregiver, results could also affect how you view your child and their potential. Say, for instance, that genetic tests predicted a low athletic ability in your child. Would this make you more or less likely to encourage them to be physically active? Conversely, if your child showed a trait tendency towards athletic achievement, would you let them slack off on more bookish pursuits and prioritize their physical education over that of their siblings?

Consider whether your desire to know if your child has inherited the disease-causing gene is overshadowing their right to medical autonomy and privacy. And, if possible, delay the decision over testing until your child is competent to make the decision.

When should children have genetic testing?

Some children can understand the idea of inheritance from as young as four year’s old. This does not mean that they are well placed to make decisions over testing, however. Young children may carry feelings of guilt and responsibility, or see illness as a punishment or failing. They might also experience significant self-blame around positive (or negative) test results. And, depending on the age of the child, they might not be able to communicate those feelings to caregivers or medical personnel in order to get proper support.

After the age of seven, children begin to develop a clearer understanding of health-related procedures and their implications and are able to provide ‘assent’. This means they are able to decline elective medical procedures and participation in medical research.

Adolescents and older children are generally considered capable of refusing medical intervention and advocating for their personal autonomy based on an understanding of potential:

  • Social risks
  • Loss of privacy
  • Stigmatization
  • Discrimination in the workplace
  • Impact on health insurance.

GINA and genetic testing

The 2008 Genetic Information Nondiscrimination Act (GINA) was introduced in 2003, passed unanimously in 2008, and protects Americans from being denied health insurance or jobs on the basis of their genes. This does not, however, provide protections for accessing life insurance, disability or long-term care insurance, and may be under threat under the current administration. That’s because of Bill H.R. 1313, which would change how GINA is applied in the workplace.

H.R. 1313 was introduced by Republicans in early 2017 and has already passed two committees, with all Republicans voting in favor and all Democrats opposing the bill. This bill would enable employers to put pressure on employees to undergo genetic tests, allow employers to demand to see the results, and even allow employers to ask to see results and medical histories for employees’ family members. If employees want to opt out of these requirements, they could end up paying 30% more for their insurance.

Given these concerns, parents may want to think twice about whole genome sequencing for their children. Not only is their potential for misuse of this knowledge to affect the child tested, this information could also have an impact on other family members’ access to employment and insurance.

All being well, children will grow up to be adults. As such, many medical ethicists argue that children should be respected as potential adults with a right to personal autonomy and privacy. Genetic testing removes the child’s right to such autonomy and privacy. And, once testing is done and the results known, there is no going back.

If a person under the age of 18 understands these risks and still wants to go ahead with genetic testing, then guidelines suggest there is no good reason to refuse such a request, particularly if there are concerns over reproductive health and carrier status.

So, if you do decide to go ahead with genetic testing, which tests might you want to consider? That’s the topic of my second post in this series.

Leigh Matthews

Leigh Matthews, BA Hons, H.Dip. NT, is a health and wellness writer specializing in plant-based nutrition. A long-time vegan, Leigh is interested in nutriepigenetics, diet as preventative medicine, and the politics of food justice.

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  1. Leigh, thoughtful piece as usual. I think it’s important to have children tested for certain nutrigenomic markers at an early age as this data can have a positive impact on their health and wellbeing. Caffeine metabolism, fat metabolism, glycemic response, lactose intolerance, risk for celiac, and histamine clearance all come to mind, among others.

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