Guidelines for genetic testing of healthy children

Question 1

What is pre-symptomatic or predictive testing?

Answer 1

Testing healthy individuals for genetic conditions that they will get

Question 2

What is susceptibility testing?

Answer 2

Testing healthy individuals for conditions that they may get

Question 3

What is carrier status testing?

Answer 3

Testing healthy individuals for conditions that their children may get

Question 4

What is the 1998 WHO Proposed International Guidelines on Ethical Issues in Medical Genetics and Provision of Genetic Services recommendation?

Answer 4

“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.”

Question 5

Which children will medically benefit from genetic screening?

Answer 5

1. Symptomatic patients to confirm a medical diagnosis

2. Genetic testing of an asymptomatic patient for purpose of enhancing medical monitoring, prophylaxis or treatment

Question 6

Are parents the decision makers for non-therapeutic interventions in their children?

Answer 6

No

Question 7

What are the American Society of Human Genetics and American College of Medical Genetics (2000) guidelines regarding genetic testing and adoption?

Answer 7

“In the adoption process, newborns and children should not be tested for the purpose of detecting genetic variations of, or predisposition to physical, mental, or behavioral traits within the normal range.”

Question 8

What are the CPS recommendations regarding genetic testing?

Answer 8

1. Parents should be informed of potential psychological and social risks associated with testing
2. Open discussion should occur and the best interest of the child should be the primary consideration
3. Appropriate counselling and genetic service involvement should be instituted
4. Timely medical benefit to the child should guide genetic testing
5. Genetic testing in childhood to confirm diagnosis in symptomatic child or to allow adequate medical monitoring, prophylaxis or treatment in a child at risk for a genetic condition that will occur in childhood is appropriate
6. For genetic conditions that will not present until adulthood (susceptibility or predictive testing), testing should be deferred until the child is competent to decide whether they want the information
7. For carrier status for conditions that will be important only in reproductive decision making, testing of children should be discouraged until the child is able to fully participate in the decision to be tested
8. A request for genetic testing by a competent, well-informed adolescent for the purpose of reproductive decision making should be considered, accompanied by appropriate counselling. The decision to include his or her family in the decision making should be made by the adolescent
9. In exceptional circumstances where parents insist that genetic testing of healthy children be carried out where there is no medical or other benefit to the child, the physician is not obligated to carry out testing that is not in the best interests of the child.
10. In exceptional circumstances, not testing may create more harm than testing. In these cases, a referral for ethics or legal opinion may be appropriate.
11. Infants and children being considered for adoption should not be subjected to genetic testing where there is no timely medical benefit