The series about the aHUS Research Agenda continues with second topic about familial genetic testing.
When it comes to genetic testing of aHUS family members what is best – to know or not to know -and what can be done with the knowledge?
Our expert’s response:
“The decision to undergo genetic testing for atypical hemolytic uremic syndrome (aHUS) is a personal one and may vary depending on individual circumstances and preferences. Here are some considerations to help with the decision:
Pros of Genetic Testing:
- Early Detection: Familial Genetic testing can identify family members at risk for aHUS. Early detection allows for close monitoring and, if necessary, early intervention to manage the condition.
- Informed Family Planning: Knowing the genetic risk can be valuable for family planning decisions. It allows individuals to make informed choices about having children and may lead to prenatal or pre-implantation genetic testing to reduce the risk in future generations.
- Precision Treatment: For individuals with known genetic mutations, personalized treatment plans can be developed to manage their aHUS effectively.
Cons of Genetic Testing:
- Psychosocial Impact: Genetic testing results may have emotional and psychological impacts on individuals and their families, potentially causing anxiety and stress.
- Insurance and Employment: Some individuals may be concerned about the implications of genetic testing results on insurance coverage and employment.
If genetic testing identifies family members at risk for aHUS, they can work with healthcare professionals to:
- Monitor Health: Regular medical check-ups can help detect early signs of aHUS and allow for timely treatment if necessary.
- Preventative Measures: For those at risk, certain measures or medications may be recommended to reduce the likelihood of developing aHUS.
- Family Planning: Individuals and couples can make informed decisions about family planning, including discussing options like prenatal testing or in vitro fertilization with genetic testing.
Ultimately, the decision to undergo familial genetic testing should be made after careful consideration and in consultation with a genetic counselor or healthcare provider. They can provide guidance, address concerns, and help individuals and families make the best choices for their unique situations.
Preferences regarding genetic testing for rare diseases vary among family members. Some may prefer testing for early detection and intervention, while others might choose not to know due to potential emotional or psychological reasons. It often depends on individual beliefs, attitudes, and the perceived benefits and risks of genetic testing. Communication and counseling play crucial roles in helping families make informed decisions based on their unique circumstances.”
So no specific answer to this topic it is up to individuals to decide whether on balance it is better to be tested or not. It would be interesting to know what the aHUS patients families think about this collectively in some form of structured research.
It would also be worth hearing from the genetic counselling professionals with experience of aHUS issues about whether the overall experience is beneficial .
This series of articles about the aHUS Research Agenda began with this article HERE.
Search with “genetics” term for other articles on this site about the topic.
Article 618 will be about the diagnosis topic.
Article No. 617