from the AAP Department of Research
Primary care pediatricians routinely
collect family health
histories, and most
have identified at
least one patient
as being at risk for a genetic-related disorder in
the past year, according to new research from the
AAP Periodic Surveys of Fellows (Saul RA, et al.
J Community Genet. 2017;8:109-115, doi: 10.1007/
s12687-016-0291-3). Fewer pediatricians, however,
order genetic tests themselves.
Ninety-seven percent of pediatricians reported
collecting a family health history with new patients
usually or all the time, and 91% reported that it
is the role of primary care pediatricians to collect
family history information.
Most pediatricians (90%) also reported being
confident in their ability to discuss the results of a
family history with parents. The majority of pediatricians (51%) reported that they collect the family
history using a standardized disease checklist. They
commonly collect data on first-degree (99%) (child/
sibling/parents) and second-degree (94%) (aunts/
uncles/nieces/nephews/grandparents) relatives, but
not on third-degree (27%) (first cousins) relatives.
In the past year, 75% of primary care pediatricians reported having identified at least one patient
as being at-risk for a genetic-related disorder, with
an average number of six identified patients. Half
of pediatricians reported referring these patients to
geneticists or other specialists rather than ordering
genetic testing themselves. Common barriers that
pediatricians reported to ordering genetic testing
included lack of training on interpreting the results
(60%), lack of care management guidelines (57%)
Survey: Most pediatricians take family history,
fewer order genetic tests
Percent of primary care pediatricians reporting
barriers to genetic testing or evaluation, 2014
Lack of training on genetic interpretation
Lack of care management guidelines
Lack of training in identifying genetic
risks and choosing appropriate tests
Inadequate time during typical visit to
interpret genetic tests
Inadequate insurance reimbursement
for genetic tests
0 10 20 30 40 50 60 70
of pediatricians reporting moderate or significant barrier
AAP Periodic Survey #87
Source: Saul RA, et al. J Community Genet. 2017;8:109-115, doi: 10.1007/s12687-016-0291-3
• 2013 supplement in Pediatrics “Genetics and Genomic
Literacy in Pediatric Primary Care,” which includes an
article on family health history-taking, http://pediatrics.
• AAP manual Medical Genetics in Pediatric Practice,
• PediaLink course Dive into the Gene Pool, https://shop.
• For more information on genetics in pediatric practice,
contact Paul Spire, in the AAP Division of Technical and
Medical Services, at 847-434-7148 or firstname.lastname@example.org.
• For more information on the Periodic Survey of Fellows,
or contact Blake Sisk, in the AAP Division of Health Services Research, at 847-434-7630 or email@example.com.
As record-setting floods and hurri-
cane-force winds wreaked havoc on
hospitals, homes and other buildings
in the south, pediatric providers like
Brian Rissmiller, M.D., FAAP (right),
coped with professional and personal
demands. The day after his Houston
home and neighborhood flooded, Dr.
Rissmiller, a critical care physician at
Texas Children’s Hospital (TCH),
retrieved a few of his family’s belong-
ings during a period of relative calm.
Along with his wife and three young
daughters, Dr. Rissmiller took shel-
ter at the home of a neighbor with a
second story. He also was to be part
of an initial “ride-out” team at TCH’s
Medical Center campus but was sent
home early due to adequate coverage
in his unit. TCH had elaborate staffing
plans to meet demands during a rapidly changing
situation. The hospital also played a critical role in
arranging emergency transport for young children
across the region with complex medical needs. Find
more coverage in the November issue of AAP News.
Storms test pediatric hospitals’ disaster
Courtesy of Mallory Rissmiller
and lack of training on selecting appropriate genetic
tests (53%) (see figure). Just under half also reported inadequate time during a typical office visit to
Three-fourths of pediatricians reported that they
would be interested in continuing medical education
programs on genetics in primary care.
Periodic Survey #87 was conducted from December 2013 to June 2014. The survey was mailed to
1,627 nonretired AAP members in the U.S., with a
response rate of 43%. Analyses were limited to pediatricians who completed residency training and who
spend most of their clinical time in primary care.