Is it necessary for newborns to receive genetic testing?

For 51 years, newborn babies can be screened for congenital diseases through blood tests, and routine newborn screening can substantially eliminate the risk of death or irreversible brain damage.

Is it necessary for newborns to receive genetic testing?

Researchers are currently trying to find the risks and benefits of genetic testing for newborns. The BabySeq project, initiated by MIT researchers, is the first project to measure the pros and cons of neonatal gene sequencing by randomly selecting controlled trials. The National Institutes of Health (NIH) invested $25 million in genetic testing for newborns, and BabySeq became the first NIH project on genetic testing for newborns.

The BabySeq project is based on the gold standard for clinical research, with data from 240 healthy babies at Brigham and Women's Hospital and 240 babies in the neonatal intensive care unit at Boston Children's Hospital. The researchers randomly selected 120 out of each group of babies for whole-genome testing, and detected 1700 variant genes associated with the disease. The remaining babies in the two groups served as controls and did not perform DNA testing. The study tracks the impact of genetic sequencing on neonatal health, sequencing costs, parental attitudes, and relationships between parents and children.

The BabySeq project has a wide range of data, and the distribution of participants reflects the diversity of the US population. Because the number of subjects is relatively small, it does not represent race, education, and socioeconomic composition.

The focus of the BabySeq project

The core issue of the BabySeq project is to focus on the following questions: What do genetic information bring to your child's parents and doctors? Will the doctor recommend receiving more tests and interventions for newborns? Will these tests and interventions make your baby healthier? Or will it only waste money? Even the ultimate disadvantage is greater than the benefits?

Project leader Robert Green acknowledges that there are many questions about how to use these genomic data in medicine, and the BabySeq project is working hard to solve as many problems as possible. For example, how does a gene accurately reveal information? How can we prevent doctors and parents from misunderstanding genomic data? What should I do if I am covered by insurance? Will genomic data affect the intimacy of parents? Does a child's tendency to have a developmental disability lead to an underestimation of their ability?

Is it necessary for genetic testing of newborns? See what the experts say

Green said that the public's practicality for genetic testing of healthy individuals has not reached a scientific consensus. Therefore, this concept can only be accepted by the public if there is a large amount of evidence that sequencing is beneficial to humans.

Whether the results of the study are positive or negative, the future of whole genome sequencing is very important. Muin Khoury, director of the US Centers for Disease Control and Prevention, said that genetic testing of newborns is a matter of rights, and that newborns have no choice but to make decisions for them. The BabySeq program is funded until 2018, and the children under study in the 2018 project are 3 years old, but if the project receives long-term financing, they will seek their advice when the child is 13 and will seek it at the age of 18. agree.

The study will test for diseases that allow doctors and parents to take action to reduce the risk of illness. For example, the project detects mutations associated with colon cancer, in which case routine examinations at the child stage can detect early treatment early. In addition, the project also detects genes associated with Rett syndrome, a disease that severely affects psychomotor development in children. It has been onset since 6-18 months and there is no cure.

The BabySeq program only screens for genetic mutations associated with childhood onset. If a baby contains a mutant gene associated with Alzheimer's, the project has no way to detect this information. Disease screening brings risks as well as benefits. For example, after breast and prostate cancer screening finds a mass, the risk of removing the mass is even greater. But once the doctor and the patient know that they have a lump in their body, they usually take interventions.

Khoury said that genetic testing for newborns will not be widely used soon. First, we should first see the genetic test results of adults and adults with genetic diseases. Based on this result, we hope to see the sequencing results of newborns.

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