Genetic counselors are central to the management of hereditary cancer syndromes including familial adenomatous polyposis in children. Herein we are investigating the attitudes and prevailing practice among genetic counselors who are members of the American Board of Genetic Counseling.
The survey should take less than 5 minutes.
We are a multi-disciplinary team involved in the tertiary care of children with hereditary gastrointestinal polyposis syndromes. If you would like further information on our program and services we welcome you to visit our website:
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1. How many patients with familial adenomatous polyposis (FAP) do you see in a year?
0
1-3
4-7
8 or more
Other (please specify)
2. Of these how many are under the age of 18 years?
0
</= 5
6-9
>/= 10
3. Rank the referral sources for these patients.
Self Referred
Primary Care Provider (Pediatrician / General Practitioner)
Adult / Pediatric Gastroenterologist
Other
4. At what age would you routinely test an asymptomatic child who has a parent with FAP for an APC mutation? (Check all that apply)
Infant < 1 year
Young child 1 - 5 years
Older child 6 - 10 years
Adolescent 11 years - adult (pre-endoscopy)
5. What is the youngest age child you have tested for an APC mutation who has a parent FAP?
INFANT (<1 year) / YOUNG CHILD (1-5 years) / OLDER CHILD (6-10 years) / Adolescent (>11 years)Asymptomatic / / / /
Symptomatic (colorectal polyps / desmoids / hepatoblastoma) / / / /
6. Do you involve a psychologist (or child psychologist) when counseling children undergoing predictive APC testing?
Never - almost never
Usually do not
Usually do
Always - almost always
7. How prevalent are the following expressed emotions / concerns amongst parents of children with FAP at the time of diagnosis?
RARE / SOMETIMES PRESENT / PRESENT IN MOST CASES / ALWAYS PRESENTAnxiety / / / /
Guilt (affected parent) / / / /
Child has limited potential (limited horizons) / / / /
Concerns re: life insurability / / / /
8. How prevalent are the following expressed emotions / concerns amongst children tested for FAP at the time of testing?
RARE / SOMETIMES PRESENT / PRESENT IN MOST CASES / ALWAYS PRESENTAnxiety / / / /
Guilt / / / /
Limited potential (limited horizons) / / / /
Concerns re: life insurability / / / /
9. In a 10 year old child referred for evaluation with only one of the following clinical features and a negative family history, how likely are you to recommend APC gene testing?
VERY UNLIKELY (never/almost never) / UNLIKELY (usually don't) / LIKELY TO TEST (usually do) / VERY LIKELY (always/most always)Hepatoblastoma / / / /
Thyroid cancer / papillary thyroid carcinoma / / / /
Desmoids (multiple) / / / /
Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE) / / / /
Jaw osteomas / / / /
Anodontia / delayed eruption of teeth / / / /
Pilomatricomas (multiple) / / / /
Other (please specify)
10. In counseling parents and formulating recommendations to the referring physician do you take into account the following? (Check all that apply)
The specific APC mutation detected in the child (genotype-phenotype based recommendation)
The severity of the disease in the family
Comments? We'd like to know what factors into your recommendation to the family or physician.
11. Does your clinic use genotype-phenotype correlations to manage clinical care for patients with FAP?
Never - almost never
Usually do not
Usually do
Always - almost always
12. Does your clinic recommend routine screening for hepatoblastoma in children less than age 5 years who are at risk for FAP?
Never - almost never
Usually do not
Usually do
Always - almost always
13. How often do you recommend obtaining an abdominal ultrasound and AFP level in children less than 5 years who are diagnosed with FAP?
Once every 3-4 months
Once every 6 months
Annually
Less than once a year
Comment:
14. Have you ever detected a hepatoblastoma using these screening methods?
No
1 case
More than 1 case
Comment:
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