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Genetic testing in familial melanoma: uptake and implications
Femke A de Snoo1, Samantha R Riedijk, Anneke M van Mil
1Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Psycho-Oncology
|July 10, 2008
Summary
Genetic counseling and p16-Leiden testing for melanoma families show high uptake. Most participants experienced no significant distress, indicating the value of this genetic testing approach for hereditary cancer.
Area of Science:
- Oncology
- Genetics
- Psychology
Background:
- Familial melanoma is often linked to genetic mutations.
- The p16-Leiden mutation increases the risk of melanoma and pancreatic cancer.
Purpose of the Study:
- To assess the uptake and psychological impact of p16-Leiden genetic testing.
- To improve understanding of counseling for melanoma families.
Main Methods:
- Offered genetic counseling and p16-Leiden testing to at-risk individuals in melanoma pedigrees.
- Evaluated uptake, acceptance, and psychological motivation in 94 participants.
Main Results:
- 141 out of 184 (77%) individuals underwent genetic testing.
- Higher pre-test risk and older age predicted uptake; age predicted acceptance.
- Fearful expectations predicted test refusal; distress levels were low.
Conclusions:
- This is the first report on p16-Leiden genetic testing for familial melanoma.
- A high uptake rate for p16-Leiden testing was observed after initial counseling.
- No clinically significant distress was found in counselees.
