This study assessed patient experiences and perceptions of expanded carrier screening and genetic counseling. The researchers surveyed 303 patients who received expanded carrier screening and genetic counseling. They found that both carriers and non-carriers reported high satisfaction with genetic counseling sessions and trust in the information provided. Most found counseling helpful for understanding results, with no significant differences between carriers and non-carriers. While some preferred in-person counseling, most were neutral or disagreed. The researchers concluded genetic counseling is important for all patients regardless of screening results.

1. Traditionally, genetic carrier screening has been performed for a
limited number of single gene disorders based on an individual’s
ethnicity, family history, and partner’s carrier status.1,2
While
initially the most cost effective, these practices have significant
limitations. For example, screening based on ethnicity alone is
problematic as the genetic pool is homogenizing and people are
becoming less aware of, or less likely to identify with, a specific
ethnicity.3
Additionally, rapid advances in genomic technology
now allow simultaneous testing to be performed for a larger
number of diseases and mutations, at a significantly lower cost
than previous methods. In response to these developments,
expanded carrier screening panels which screen for upwards of
200 diseases at one time have become increasingly common.
A number of professional societies have recognized the clinical
benefits of expanded carrier screening, and recently published a
joint statement on the incorporation of such platforms into clinical
practice for prenatal and preconception patients.4
This statement
outlined inclusion and exclusion criteria for expanded carrier
screening panels in order to ensure clinically actionable and
responsible testing. These guidelines also stressed the importance
of providing pre- and post-test genetic counseling to patients.
As genetic tests and counseling services become more
commonplace, it is important to better understand their impact
on patients. A number of studies have been conducted to
measure the utility of genetic tests for patients.5,6
However,
no studies have specifically assessed patients’ responses to
multiplex genetic tests, such as expanded carrier screening,
provided in a clinical setting and paired with genetic
counseling. Our objective was to close this gap by
surveying patients on their experience with both
expanded carrier screening and genetic counseling.
As patients’ experiences might differ based on their test
results, we also sought to compare their experience
by their results and carrier status. More specifically,
one of our aims was to determine if there were any
significant differences in patient perceptions regarding
genetic counseling between carriers and non-carriers,
as genetic counseling services are often overlooked
for patients who are not identified as carriers.
Patients undergoing expanded carrier screening were sent a
survey three weeks after results were returned. Post-test genetic
tele-counseling services were offered to all patients whose
referring providers had not previously opted out of the service.
Post-test tele-counseling sessions offered by the laboratory are
typically 30–45 minutes in length and include the following
components: overview of testing performed, education about
genetics and inheritance, explanation of test results, discussion
of partner testing and reproductive options, and a thorough
review of the patient’s medical and family history.
The survey included a variety of questions meant to assess
their perceptions of and experience with both expanded
carrier screening and genetic counseling. For the purposes
of these analyses, we focused on questions which directly
related to patients’ experiences with the genetic counseling
services provided by the testing laboratory. Consent was
obtained for all participants.
Participants were asked to report their carrier status
(carrier or non-carrier) as well as:
1. their level of satisfaction with the discussion of their results
with the genetic counselor,
2. their level of trust in the information provided during the
genetic counseling session, and
3. how helpful the conversation with the genetic counselor
was in understanding their results.
Participants were also asked to agree or disagree with
the following:
1. if they would have preferred in-person genetic counseling
if it were available,
2. if the information provided during the genetic counseling
session was adequate, and
3. if they were disappointed that their testing results did not
tell them more information.
Participants provided specific demographic factors, including
age, gender, and race/ethnicity. Responses to all questions
were analyzed and compared between carriers and non-
carriers to assess any differences between the two groups.
Study Population Demographics
A total of 303 participants fully completed the survey. Of those
303 participants, 255 participants reported having genetic
counseling through the testing laboratory.
Of the 255 participants who had genetic counseling, 106
participants reported positive carrier status (i.e. carrier), 145
participants reported negative carrier status (i.e. non-carrier),
and 4 participants reported being unsure of their carrier status.
The majority of participants were female (86%) and between
30 and 40 years of age (Figure 1). While the majority of
participants were Caucasian, more than 40% of participants
indicated non-Caucasian ancestry (Figure 2).
Patient Experience With Genetic Counseling
Satisfaction With Genetic Counseling
99 of the 106 participants (93%) reporting positive carrier
status and 135 of the 145 participants (93%) reporting
negative carrier status reported high satisfaction with the
discussion of their genetic testing results with the genetic
counselor. A Fisher’s exact test revealed no statistically
significant difference in satisfaction between carriers
and non-carriers (p-value = 0.265).
Trust in the Information Provided During Genetic Counseling
100 of the 106 participants (94%) reporting positive carrier
status and 135 of the 145 participants (93%) reporting
negative carrier status reported trusting the information given
to them by the genetic counselor. A Fisher’s exact
test revealed no statistically significant difference in trust
between carriers and non-carriers (p-value = 0.918).
Helpfulness of the Genetic Counseling Session
96 of the 106 participants (91%) reporting positive carrier
status and 118 of the 145 participants (81%) reporting
negative carrier status reported that they found the
conversation with the genetic counselor very helpful in
understanding their genetic testing results. A Fisher’s
exact test revealed no statistically significant difference
between carriers and non-carriers (p-value = 0.092).
Preference for In-Person Genetic Counseling Services
While some participants indicated they would have preferred
in-person genetic counseling services, a majority of both
carriers and non-carriers (63% of participants in each group)
were neutral about or disagreed with a preference for in-person
genetic counseling (Figure 3). There was no significant
difference between carriers and non-carriers (p-value = 0.757).
Adequate Information Provided During Genetic Counseling
A majority of both carriers and non-carriers (92% of participants
in each group) indicated they did not feel the information
provided during the genetic counseling session was adequate
(Figure 4). There was no significant difference between carriers
and non-carriers (p-value = 0.876).
Disappointment About Results
A majority of both carriers and non-carriers (61% and
57% respectively) indicated they were disappointed that
their results did not tell them more information (Figure 5).
Non-carriers were more likely to be disappointed than
carriers (p-value = 0.003).
Patient Experiences With Expanded Carrier Screening:
Satisfaction With Post-Test Genetic Counseling
Sally Rodriguez, ScM, CGC1
, Kate Lee, MPH1
, Sarah Yarnall, MS, CGC1
,
Neha Kumar, ScM1
, Sara Bristow, PhD1
, Claudia Pascale, PhD2
, Serena Chen, MD2
1
Recombine Inc, New York, NY, USA, 2
Institute for Reproductive Medicine and Science at St. Barnabas, Livingston, NJ, USA21
0
10
20
30
40
50
60
70
80
90
18–24
years
25–29
years
30–34
years
35–39
years
40–44
years
45+
years
I’d rather
not say
NumberofParticipants
Figure 1. Study Participants’ Demographics: Age
14%
6%
58%
8%
6%
2%
1%
5%
Asian
Black
Caucasian
Hispanic
Jewish
Native American
Pacific Islander
Other/I’d rather not say
Figure 2. Study Participants’ Demographics: Race/Ethnicity
0
10
20
30
40
50
60
Strongly
Disagree
Somewhat
Disagree
Neither Agree
nor Disagree
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Carrier Non-Carrier
NumberofParticipants
Figure 3. Preference for In-Person Genetic Counseling
0
10
20
30
40
50
60
70
80
90
100
Strongly
Disagree
Somewhat
Disagree
Neither Agree
nor Disagree
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Carrier Non-Carrier
NumberofParticipants
Figure 4. Adequate Information Provided
0
10
20
30
40
50
60
Strongly
Disagree
Somewhat
Disagree
Neither Agree
nor Disagree
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Strongly
Agree
Carrier Non-Carrier
NumberofParticipants
Figure 5. Disappointment Regarding Results
Presented at: CoGEN: Controversies in Preconception, Preimplantation, and Prenatal Genetic Diagnosis: How will genetics technology drive the future?, 25–27 September 2015, Paris, France
Introduction
Materials Methods
Results
While our study population was largely female (86%), their ages varied widely and more than 40% of participants reported
at least some non-Caucasian ancestry, indicating that the study population is relatively diverse. Generally, participants
reported high satisfaction with their genetic counseling sessions as well as trust in the information provided. They also
generally found the genetic counseling session to be helpful in understanding their results. As there was no significant
difference between carriers and non-carriers, this indicates that the implementation of post-test genetic counseling for
expanded carrier screening is important for all patients, regardless of results, and should be considered in clinical practice.
A majority of participants, regardless of carrier status, were neutral about or disagreed with a preference for in-person genetic
counseling. This indicates that tele-counseling may be a viable method of providing genetic counseling services for expanded
carrier screening. However, most participants (92%) did not feel that the information provided to them during the genetic
counseling session was adequate. This feeling did not differ by carrier status. This finding is certainly concerning, as patients
should feel satisfied with the information learned during their sessions. This result is also in contradiction to participants’
general feelings regarding the helpfulness of the genetic counseling sessions. Given this, it is essential to better understand
what patients are expecting and hoping for in a genetic counseling session, to ensure that they feel knowledgeable and
empowered to make decisions with the information gained. Furthermore, genetic counselors providing tele-medicine may
also need to find better methods for gauging patients’ needs and anticipating potentially unasked questions.
A majority of participants, both carriers and non-carriers, also indicated that they were disappointed that their genetic
testing results did not tell them more information. Non-carriers were significantly more likely to feel this way than carriers.
This finding may indicate that there is a need for pre-test genetic counseling in addition to post-test genetic counseling, to
ensure that patients have an appropriate understanding of what the testing entails and what results may or may not reveal.
As the majority of patients will not come back as carriers after pursuing expanded carrier screening, proper pre-test
counseling to set clearer expectations is essential.
It will be important for genetic counselors to consider these results when conducting both in-person and tele-counseling sessions.
The field may benefit from additional studies focused on patient expectations and desires for genetic testing and genetic
counseling services, to ensure full utility of the services provided.
Discussion
References
1. Gross SJ, Pletcher BA, Monaghan KG. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008;10(1):54-56. 2. ACOG. ACOG Committee Opinion No. 442: Preconception and Prenatal Carrier Screening for Genetic Diseases in Individuals of Eastern European
Jewish Descent. Obstet Gynecol. 2009;114(4):950-953. 3. Tayo BO, Teil M, Tong L, et al. Genetic background of patients from a university medical center in Manhattan: implications for personalized medicine. PLoS One. 2011;6(5):e19166. 4. Edwards JG, Feldman G, Goldberg J, et al.
Expanded Carrier Screening in Reproductive Medicine—Points to Consider: A Joint Statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Qual. Obstet Gynecol.
2015;125(3):653-662. 5. Carere DA, Couper MP, Crawford SD, et al. Design, methods, and participant characteristics of the Impact of Personal Genomics (PGen) Study, a prospective cohort study of direct-to-consumer personal genomic testing customers. Genome Med. 2014;6(12):96.
6. Cella D, Hughes C, Peterman A, et al. A brief assessment of concerns associated with genetic testing for cancer: the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire. Health Psychol. 2002;21(6):564-572.
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