[Genetic screening in children]

M L Briard1

  • 1Centre national d'information sur les maladies génétiques, 102, rue Didot, 75014 Paris, France. briard@necker.fr

Insights

Genetic testing for children should prioritize their well-being. Early genetic status identification can improve care, but parental desires must not override the child

Area of Science:

  • Pediatric Genetics
  • Bioethics
  • Clinical Decision-Making

Context:

  • Genetic testing in children requires careful consideration of direct benefits.
  • The child's best interest must guide decisions, not parental anxiety or hope.
  • Early genetic information can impact medical management and psychological outcomes.

Purpose:

  • To establish ethical guidelines for prescribing genetic tests to children.
  • To differentiate between testing for childhood-onset diseases versus adult-onset conditions.
  • To emphasize the child's autonomy and future well-being in genetic testing decisions.

Summary:

  • Genetic testing for children is ethically justified only when it offers a direct benefit, such as early intervention for childhood diseases.
  • Decisions must prioritize the child's welfare, protecting them from unnecessary medical surveillance or psychological distress.
  • Testing for adult-onset conditions or risks solely affecting future descendants is inappropriate for minors.

Impact:

  • Promotes responsible genetic testing practices in pediatric populations.
  • Ensures that genetic information is used to benefit the child directly.
  • Reduces potential harm from premature genetic knowledge and parental pressure.

Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
What is Genetic Engineering?01:34

What is Genetic Engineering?

Genetic engineering is the process of modifying an organism’s DNA to introduce new, desirable traits. Many organisms, from bacteria to plants and animals, have been genetically modified for academic, medical, agricultural, and industrial purposes. While genetic engineering has definite benefits, ethical concerns surround modifying humans and our food supply.Scientists can Deliberately Modify an Organism’s GenomeGenetic engineering is possible because the genetic code—the way information is...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...