WHAT ARE THE CONCERNS SURROUNDING ROUTINE (OR EVEN MANDATED) GENETIC SCREENING?

WHAT ARE THE CONCERNS SURROUNDING ROUTINE (OR EVEN MANDATED) GENETIC SCREENING?

The introduction of genome sequencing into health care has many important implications. In the case of prenatal and early diagnosis in newborns, genome sequencing is likely to prove useful for early diagnosis of disease susceptibility and thus will likely augment existing tests performed at birth. Presently, about 30 such tests are routinely performed. A strong case can be made that genome sequencing or at least genetic screening should be performed for all expectant parents for these purposes. If performed at an early stage of pregnancy, this information may—depending on the wishes of the parents and the severity of the disease—lead to an early termination of pregnancy, or afford the chance to become informed and plan ahead for the birth of a child with a genetic disease.

The situation becomes more complex when genetic variants of unknown effect are discovered and the disease risk is not certain. Similarly, there is a concern about the ethics of termination of pregnancy for non-disease associated situations such as sex (i.e., boy or girl), height, intellectual ability, eye and hair color, athleticism, and other non-health related traits. Presently, most of these traits are difficult to predict from a genome sequence, but it is likely that the predictive power will improve in the near future, particularly when we better understand both genetic and epigenetic effects on these traits. This raises concerns about eugenics, namely, that our society may start producing more and more “prescreened” children who are selected to display only a limited set of genetic traits.

One possible concern with producing a homogenous set of children who are devoid of what we believe to be disease-causing variants is that some variants are likely deleterious in some situations and beneficial in others. For example, the mutation that causes sickle cell anemia is thought to help prevent malaria, while cystic fibrosis mutations are thought to help reduce tuberculosis. Individuals with mutations in the CCR5 gene do not get HIV infection. Thus, what may be perceived as a disease in one context might prove beneficial in another. From a species perspective, eliminating all disease-causing mutations and creating a more homogeneous population will likely make humans more susceptible to pathogens by reducing the natural genetic variation (including unknown variants that confer pathogen resistance) that is currently present in the human population as a whole.

Should parents have a right to their children’s “non-immediate” health information (i.e., diseases that do not occur directly at, or shortly after, birth)? Expectant parents who sequence their children in utero or at birth might become overly concerned about potential risks and over-manage their children’s lives and health—picture the so-called “helicopter parents.” On the other hand, one could argue that having information that is actionable, especially during childhood, is valuable to prevent and/or ameliorate the effects of diseases before onset of symptoms. For example, it is clear that working with children with autism at an early age can be extremely beneficial. Thus, withholding such useful information could be harmful to the well-being of the child.

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About Genomic Medicine UK

Genomic Medicine UK is the home of comprehensive genomic testing in London. Our consultant medical doctors work tirelessly to provide the highest standards of medical laboratory testing for personalised medical treatments, genomic risk assessments for common diseases and genomic risk assessment for cancers at an affordable cost for everybody. We use state-of-the-art modern technologies of next-generation sequencing and DNA chip microarray to provide all of our patients and partner doctors with a reliable, evidence-based, thorough and valuable medical service.

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