The results of the survey responses are presented in tabular format, and are summarized here as well. The data have been divided into the following tables: demographic data (); definitions and diagnostic criteria (); testing approach (); information related to Fanconi anemia testing ().
Demographic information for 121 survey respondents.
Definitions and diagnostic criteria.
Data related to Fanconi anemia testing attitudes.
We analyzed results from 121 respondents; although most (61%) are based in the United States, the remainder (39%) represents 14 different countries. Approximately 10% are physicians still in genetics-training programs. The experience of the remaining 90% of respondents ranges from immediate post-training to over 20 years of medical genetics experience; the latter category represents the single largest group of respondents (26% of the total) ().
As expected, there was a wide range of responses in terms of how the condition is termed, defined, and what testing is offered (). Most respondents call the condition “VACTERL” association (64%) and require at least three component features to be present (79%). Among component features, vertebral anomalies, anal atresia, and tracheo-esophageal fistula were included as defining in at least 90% of respondents. Cardiac malformations, renal anomalies, and limb abnormalities were all considered to be defining features by less than 90%. In addition to the core component features, some respondents consider other features to be defining, including other anomalies (eg, genitourinary) and the presence of spatially disparate malformations. A majority of respondents indicated that the presence of non-classic features, such as dysmorphic facial features (79%), or unexplained cognitive impairment (80%), would alter the diagnostic impression.
Just as there is great variability in the definition and diagnostic features used, there is a wide spectrum in terms of genetic work-up typically initiated when clinical geneticists encounter a patient with VACTERL association (). Microarray analysis is the single most common test used in both the prenatal (56%) and postnatal (86%) settings, followed by routine karyotype, Fanconi anemia testing, and single-gene testing.
As Fanconi anemia can be associated with significant medical complications, we inquired about how often respondents test for this condition, and what typically leads to such testing (). Unsurprisingly, many different responses were given related to what triggers Fanconi anemia testing. Interestingly, approximately two-thirds of respondents either never test for this condition, or test for this condition less than 25% of the time.