Keywords patient–provider communication - pregnancy related care - genetic counseling - genetic
screening - genetic testing
The last two decades have ushered in an explosion of new genetic screening and diagnostic
testing that provides patients with more accurate and specific information about their
health. Due to these advances, prenatal genetic screening and testing has become increasingly
common in obstetric health care with multiple new recommendations by the American
College of Obstetricians and Gynecologists (ACOG)[1 ]
[2 ]
[3 ]
[4 ] to guide providers. Furthermore, these novel technological advances in genetic screening
require well-informed patients to understand the results and implications of the tests
provided
Despite this increase in knowledge of genetic services and research, there remains
a deficit in understanding the applications of these services on the patient when
considering screening tests.[5 ] In fact, studies show women who underwent genetic screening and testing later report
being unaware of the purpose of the test and what the results mean.[6 ] Inadequate understanding of the implications of genetic services can impact a patient's
health and their decision-making, especially in the context of prenatal care.[7 ]
There is currently limited research regarding prenatal testing and patient education.
Research shows there is a lapse in communication between providers and patients on
genetic screenings. For example, in studies with Mexican origin patients, poor communication
resulted in refusal of amniocentesis in pregnant women.[8 ] This observed lack of communication may be further compounded by providers' expressed
need for additional education and guidance in patient education of the new tests,
like the cell-free deoxyribonucleic acid (cfDNA) screening.[9 ] These studies successfully highlight the lack of adequate patient education on specific
genetic screening tests like amniocentesis and cfDNA, but fail to provide data on
the pregnant women's knowledge of genetic tests and how they receive information.
Therefore, this survey study aims to assess patient knowledge of genetic screening
and diagnostic testing, evaluate the educational resources patients currently use
from perspective of patients and providers, and identify areas to improve clinical
resources on genetic testing education to improve the patient–provider communication
in prenatal care.
Methods
Patient and providers at a major urban obstetrics and gynecology (OBGYN) department
were offered the opportunity to complete a one-time anonymous survey. Patient surveys
were distributed during clinic visits to all patients presenting for a prenatal-related
visit (ultrasound visit, prenatal checkup, or routine nonstress test visit). Provider
surveys were distributed using the clinic listserv via Qualtrics with one initial
distribution and three subsequent reminder e-mails, approximately 3 to 4 weeks apart.
Providers that received the e-mail included physicians (resident and nonresident),
nurse practitioners, registered nurses, genetic counselors, medical assistants, and
licensed practical nurses; however, there were no responses identified as licensed
practical nurses. This study was approved by the George Washington University institutional
review board, and in collaboration with the Pregnancy Related Care Research Network
(PRCRN).
Patient Surveys
The patient demographics included age, race, level of education, and current trimester.
To understand clinical experiences, patients were asked if they had had prior screening
and diagnostic testing in an earlier pregnancy, recalled discussions with providers
during this pregnancy, or were interested in various screening and testing options
(first trimester blood work and ultrasound, cfDNA blood work, cystic fibrosis carrier
blood work, hemoglobin electrophoresis, sickle cell trait carrier blood work, thalassemia
carrier blood work, second trimester blood work, chorionic villus sampling, amniocentesis,
maternal serum α-fetoprotein, or anatomy ultrasound). Patients were also asked if
they had discussed the difference between screening and diagnostic testing with a
provider, had met with a genetic counselor, and if these health care professionals
were able to answer their questions using a 3-point Likert scale (“Unable to answer
any of my questions,” “Answered some, but not all my questions,” and “Answered all
my questions”).
To assess patient knowledge about the association between genes, chromosomes, the
body, as well as disease, we utilized 6 items from a 16-item survey previously utilized
by Haga et al[5 ] and Jallinoja and Arro[10 ] in the general population, as well Calsbeek et al[11 ] in a nonobstetric patient population. The full 16-item survey was not utilized due
to concerns for survey length. These questions focused on general genetics-related
knowledge and the health implications using a 5-point Likert scale (from “strongly
disagree” to “agree”). The six statements adapted from prior work are listed in [Table 1 ]. All other knowledge-based statements, such as defining genetics invasive testing
options, were not adapted from prior work. Patient responses were then binned into
“correct,” “incorrect,” and “unsure” using the following key: strongly agree/agree = correct;
neutral = unsure; and strongly disagree/disagree = incorrect.
Table 1
General patient knowledge of genetics
Survey questions
Current population (N = 461), % correct
One can see a gene with a naked eye
80.5
A gene is a disease
85.7
A gene is part of a chromosome
74.8
Genes are inside cells
81.4
Healthy parents can have a child with a hereditary disease
83.2
The carrier of a disease gene may be completely healthy
83.4
Sources: Adapted from Haga et al,[5 ] Jallinoja and Aro,[10 ] and Calsbeek et al.[11 ]
Provider Surveys
The provider demographics included age, type of provider, primary specialty, race/ethnicity,
and years in clinical practice. Provider knowledge is discussed at length in prior
published work.[12 ]
Patient–Provider Comparisons
Both patients and providers were asked to recall in-office discussions, distribution
of several resources in office, and to interpret the usefulness of proposed educational
tools related to genetic screening and diagnostic testing using a 3-point Likert Scale
(“not useful,” “useful,” and “very useful”).
All data were analyzed using IBM SPSS Statistics. Descriptive statistics and chi-squared
analysis of results are reported.
Results
Patient Results
A total of 500 patient surveys were distributed, of which 466 were completed and 441
were analyzed after assessing for ≥ 75% survey completion (88.2% response rate). On
average, patients were 32 years old, 27 weeks pregnant, and most often reported a
graduate degree level of education (47.4%), with those identifying as Caucasian with
the highest reported graduate degree level (70%). Patients most often presented for
a routine prenatal visit (53.7%). A majority of patients self-identified as Caucasian/White
(47.5%), and then as African American/Black (37.6%). In all, 38.1% reported screening
and diagnostic testing in a prior pregnancy; however, 84.6% reported conversations
about genetic screening with providers during their current pregnancy ([Table 2 ]). Of the 47.8% of patients who reported meeting with a genetic counselor, 56.7%
reported having all their questions answered.
Table 2
Patient and provider demographics
Provider, n (%)
Patient, n (%)
Age (y)
43.3 ± 12.7
32.1 ± 5.4
Gender: male/female
3(5.1)/52 (88.1)
–/441(100)
Race/ethnicity, n (%)[a ]
Hispanic/Latino
3 (5.1)
19(4.4)
Caucasian
32 (54.2)
207 (47.5)
Asian
5 (8.5)
27 (6.2)
African American
17 (28.8)
164 (37.6)
American Indian/Native Alaskan
–
2 (0.5)
Multiracial
1 (1.7)
16 (3.7)
Patient specific
Gestational age (wk)
–
27.9 ± 9.5
Discussion in prior pregnancy
–
168 (38.1)
Visited with genetic counselor
–
210 (47.8)
Highest level of education
Not reported
–
5 (1.1)
Grade school
–
6 (1.4)
High school
–
98 (22.2)
College degree
–
123 (27.9)
Graduate degree
–
209 (47.4)
Clinic visit reason
Prenatal visit
–
237 (53.7)
Ultrasound visit
–
87 (19.7)
Genetic counseling
–
5 (1.1)
Other reasons[b ]
–
6 (1.4)
Multiple visits in 1 d
–
81 (18.4)
Antenatal testing
–
26 (5.9)
Provider specific
Clinical years in practice (average ± standard deviation)
12.2 ± 12.1
–
Type of provider
Nonresident medical doctor
16 (27.1)
–
Resident medical doctor
5 (8.5)
–
Nurse practitioner
1 (1.7)
–
Certified midwife
8 (13.6)
–
Genetic counselor
2 (3.4)
–
Medical assistant
8 (13.6)
–
Administrative assistant
16 (27.1)
–
a Multiple response variable; therefore, total % of responses is more than 100%.
b Other reasons: symptomatic follow-up, high-risk consult.
At least 60% of patients were able to accurately answer general genetics-related screening
and diagnostic testing questions, except for defining aneuploidy (30.4%; [Fig. 1 ]). If a patient reported discussing screening and diagnostic testing with their provider,
they were significantly more likely to properly define screening and diagnostic testing
(p < 0.001).
Fig. 1 Proportion of patients who correctly identified each statement. Proportions are presented
on the horizontal axis with the statements presented on the vertical axis.
Patients reported accessing educational resources independently, with the most common
resource being web links/video (40%), followed by pamphlets/brochures (37.1%; [Fig. 2 ]).
Fig. 2 Proportion of patients who reported receiving or accessing an educational tool by
type of resource. Proportion of patients who accessed a resource by percentage on
the vertical axis and type of resource listed on the horizontal axis.
Provider Results
A total of 229 providers were sent online surveys via e-mail, and 66 responses were
completed (response rate 29%). From the 66 provider responses, 59 completed more than
50% of the survey. A majority (88.1%) were females, on average 41 years old, and in
practice an average of 12 years ([Table 2 ]).
Patient and Provider Comparison
Patients and providers reported receiving and distributing paper resources (pamphlets/flyers/brochures)
most often (66.7 and 90% at one or more visits, respectively). Less than 10% of participants
reported providers distributing web or video links, books, or any other resource;
however, patients most often independently accessed web links (40.1%).
When questioned whether brochures or pamphlets, discussions with providers, discussions
for reasons for a genetic counseling referral, group education classes, or online
education would be useful, all but one option was perceived to be useful 80% or more
of the time by patients. Meanwhile, providers found all resources useful over 85%
of the time. The largest discrepancy was of the perceptions of group education classes
with less than half the patients (47.6%) perceiving it as useful, but majority of
providers found it useful (75.9%; [Table 3 ]).
Table 3
Patient and provider recall access to and distribution of resources
Provider-reported distribution
Never (%)
One or more visits (%)
Patient reported receiving (%)
Patient independently accessed (%)
Pamphlet/brochure/flyer
10
90
66.7
37.4
Web link/video link
66.7
33.3
10
40.1
Book recommendations
86.7
13.3
6.6
12.5
Other resources
77.8
22.2
3.6
4.1
Verbal discussions
–
100
81.8
–
Provider-perceived usefulness
Patient-perceived usefulness
Discussion regarding indications for genetic counseling referral
93.1
86.2
–
Informational brochure/pamphlets inside the prenatal folder
89.7
87.5
–
Having more discussions in the office with your provider
89.7
85
–
Group education class on genetic screening and diagnostic tests
75.9
47.6
–
Online education resource for review in your home
93.1
80.5
–
Discussion
A majority of patients are well informed on basic genetic concepts and were able to
distinguish between the definitions of a screening and a diagnostic test. Patients
who discussed screening and diagnostic testing were more likely to correctly define
the terms, supporting counseling during provider visits is beneficial to patient's
understanding of genetic screening and testing.
These results support the continuation of productive and educational conversations
between patients and providers. However, when compared with a similar demographic
population, patients were still less knowledgeable in genetics questions highlighting
current measures may not be enough at a time when knowledge is necessary to make informed
health decisions.
To find better ways to increase patient knowledge, the comparison of resources patients
received from providers and the resources accessed individually shows a window of
opportunity in which providers could create new effective and efficient tools for
clinical practice to better engage patients. Furthermore, the discrepancies between
patient and provider perceptions, seen largest with the idea of group classes, highlight
where providers should consider increasing efforts (utilizing differing media and
private discussions vs. group settings) for patient counseling. This patient perception
may also only serve to emphasize the personalized needs and privacy associated with
genetic screening and diagnostic testing.
However, it is critical to understand that the patient demographic captured in this
survey study may not be generalizable to the general population—as we had a significantly
large number of patients reporting a graduate degree or higher, compared with prior
U.S. published census data.[13 ] Additionally, the large number of genetic counselor visits reported may also not
be generalizable to the general prenatal population due to the varying institutional
practices as well as availability of genetic counselors. These two factors may lead
to falsely conceived higher levels of genetic knowledge than other populations. Furthermore,
recall bias may also lead to inaccurate responses by patients and providers alike.
Utilizing this information, future research should study whether implementing educational
tools via technological tools, like QR codes, into the waiting room, and in clinic,
in congruence with patient-identified “usefulness” (i.e., web links/videos) would
increase patient knowledge of genetic screening and diagnostic testing.
