|

Received: 15 November 2018    Accepted: 18 June 2019

DOI: 10.1002/jgc4.1150

ORIGINAL ARTICLE

Prenatal and preconception genetic counseling for

consanguinity: Consanguineous couples' expectations,
experiences, and perspectives

Emily Thain1,2,3,4  | Cheryl Shuman1,2,3 | Kristen Miller1,5 | Karen Sappleton6 |

Diane Myles‐Reid1,7 | David Chitayat1,2,7 | Clare Gibbons1,5

1
Department of Molecular Genetics,
University of Toronto, Toronto, ON, Canada Abstract
2
Division of Clinical and Metabolic Genetics, Consanguinity, the union between two individuals who are related as second cousins
Department of Pediatrics, The Hospital for
or closer, is a long‐standing and respected tradition in many communities. Although
Sick Children, Toronto, ON, Canada
3
Department of Genetic Counselling, The
there are social and economic benefits of consanguineous unions, offspring are at in‐
Hospital for Sick Children, Toronto, ON, creased risk of having an inherited genetic condition or congenital anomaly. Genetic
Canada
4
counseling services for consanguinity are available to couples at many centers.
Familial Cancer Clinic, Princess Margaret
Cancer Centre, Toronto, ON, Canada However, little is known about patient expectations of and experiences with genetic
5
Genetics Program, North York General counseling for this indication, or their perspectives on genetic screening relevant to
Hospital, Toronto, ON, Canada
6
family planning, such as expanded carrier screening (ECS). This exploratory qualita‐
The Hospital for Sick Children, Centre
for Innovation and Excellence in Child and tive study involved interviews with 13 individuals who had recently received pre‐
Family‐Centred Care, Toronto, ON, Canada conception or prenatal genetic counseling for consanguinity at a single center. We
7
Prenatal Diagnosis and Medical Genetics
sought to gain insight into their expectations for the genetic counseling session, ex‐
Program, Department of Obstetrics and
Gynecology, Mount Sinai Hospital, Toronto, periences discussing family history and reproductive risks with the genetic counselor,
ON, Canada
and views on ECS. Interview transcripts were analyzed using an interpretive descrip‐
Correspondence tive approach. Data analysis revealed three main themes: (a) anticipation balances
Emily Thain, Familial Cancer Clinic, Princess
apprehension before the appointment; (b) genetic counseling reduces anxiety and
Margaret Cancer Centre, 610 University
Avenue, 700U 6W390, Toronto, ON M5G empowers; and (c) the need for wider information dissemination about consanguin‐
1Z5, Canada.
ity‐related risks and genetic services. Our findings support the personal utility of ge‐
Email: emily.thain@uhn.ca
netic counseling for consanguinity and demonstrate the need for increased visibility
Funding information
and access to genetics information, counseling, and testing relevant to this patient
University of Toronto
population.

KEYWORDS
carrier testing, consanguinity, cultural competence, expanded carrier screening, genetic
counseling, genetics services, preconception, prenatal, recurrence risk, risk perception

1 |  I NTRO D U C TI O N
Consanguinity, the union between two individuals who are related
as second cousins or closer (inbreeding coefficient F equal to or
greater than 0.0156) is a long‐standing and respected tradition in
many communities world‐wide that can offer numerous social and
economic advantages (Bittles, 1994; Hussain, 1999; Shaw, 2014).
Consanguineous marriages account for approximately 20%–50+%
of all marriages in parts of the Middle East, North Africa, West and
South Asia, parts of Southern Europe, and among emigrants from
these regions who reside in Western Europe, Australia, and North
America (Bittles, 2001; Hamamy et al., 2011; Modell & Darr, 2002).

J Genet Couns. 2019;00:1–11. © 2019 National Society of Genetic Counselors |  1

wileyonlinelibrary.com/journal/jgc4  
 |
2       THAIN et al.
Offspring from consanguineous unions have an increased risk
of manifesting autosomal recessive conditions such as inborn errors
of metabolism, thalassemia, and deafness (Bittles & Black, 2010;
Sandridge, Takeddin, Al‐Kaabi, & Frances, 2010) as well as congenital
anomalies (Sheridan et al., 2013). The risk of inheriting homozygous
pathogenic variants in one or more recessive genes increases when
consanguineous partners have a closer biological relationship.
Increased awareness of some consanguinity‐related reproduc‐
tive risks, such as thalassemia, combined with the cultural signifi‐
cance of consanguineous unions, has led to greater demand for
preconception and prenatal genetic counseling that sensitively
navigates, rather than opposes, this custom (Bittles & Black, 2010;
Hamamy, 2012; Posch et al., 2012). The National Society of Genetic
Counselors (NSGC) has previously published genetic counseling
guidelines for this indication, recommending a formal risk assess‐
ment for having a child with an autosomal recessive condition or
congenital anomaly based on background population risk, degree of
consanguinity, and relevant findings on a three to four generation
family history (Bennett et al., 2002).
Previous research has explored knowledge of and attitudes to‐
ward consanguinity‐related reproductive risks in select communities
that traditionally favor consanguinity. Responses toward risk infor‐
mation have been shown to vary in consanguineous British Pakistani
couples, and are shaped by social and moral considerations, includ‐
ing whether or not they already had an affected child (Shaw, 2011).
Khan, Benson, MacLeod, and Kingston (2010) found that consan‐
guineous South Asian couples in the UK with an affected child had
limited knowledge of relevant genetics concepts prior to genetic
counseling, but that genetics information was generally accepted
once discussed. Sandridge et al. (2010) reported similar findings
when surveying Qatari participants, many of whom had consanguin‐
eous parents or were in a consanguineous relationship themselves.
Most recognized that consanguinity increased the risk for “health
conditions” and “genetic abnormalities”, yet many had a limited
knowledge of risks for specific health conditions that can be related
to a consanguineous couple's reproductive risk. Furthermore, many
participants were not aware of the relationship between relatedness
of the two partners and genetic risk.
Beliefs and expectations relevant to genetic counseling for con‐
sanguinity have been previously identified. Cultural and personal
health beliefs that conflict with Mendelian inheritance patterns can
introduce challenges when discussing family history and genetic
risk in the counseling session (Shaw & Hurst, 2008). For example,
a belief that inheritance of genetic disorders only occurs on the
paternal side of the family may act as a barrier to full disclosure
of consanguineous relationships (Hamamy, 2012). This is compli‐
cated by genetics information relevant to consanguinity that can
be challenging to communicate to families (Darr et al., 2016). Shaw
and Hurst (2008) found that stigma of consanguineous marriage in
Western society also impacted the provision of genetics services
to consanguineous British Pakistani couples with an affected preg‐
nancy or child. They reported that stigma toward consanguineous
marriage was evident through some individuals' confusion and
skepticism toward reproductive risk information. They also high‐
lighted the expectation of blame and disapproval as a factor influ‐
encing genetic counseling discussions and as a barrier to accessing
genetic services. Similar themes were acknowledged in previous
NSGC recommendations that recommended a discussion of fears,
perceived disapproval from friends or family, and related feelings of
guilt or shame when counseling consanguineous couples (Bennett
et al., 2002).
Traditionally, targeted carrier screening for select conditions
has been offered based on ethnicity and family history, since the
prevalence of many autosomal recessive disorders varies based on
ethnic background (Bennett et al., 2002). This approach has success‐
fully reduced the prevalence of select recessive disorders, such as
inherited hemoglobinopathies, in highly consanguineous commu‐
nities (Hamamy, 2012). However, as costs of DNA sequencing and
analysis continue to decrease, expanded carrier screening (ECS) has
become an increasingly accessible option to couples, offering a pan‐
ethnic approach to identify asymptomatic carriers for a broad range
of autosomal and X‐linked recessive conditions (ACOG Committee
Opinion No. 690, 2017). ECS can allow couples to make informed de‐
cisions about their reproductive options (Ghiossi, Goldberg, Haque,
Lazarin, & Wong, 2018) and may be particularly beneficial for con‐
sanguineous couples given shared genetic variants from their com‐
mon ancestor(s).
To date, little is known about perspectives of individuals who re‐
ceive prenatal or preconception genetic counseling for consanguin‐
ity. Additionally, there is a paucity of research on consanguineous
couples' perceptions of ECS services. In this study, we sought to
gain insight into the perspectives of individuals who receive genetic
counseling for consanguinity. We aimed to explore couples' expec‐
tations for the genetic counseling session, experiences discussing
family history and reproductive risks with the genetic counselor,
and views on ECS. Understanding these issues is critical to providing
appropriately tailored and culturally competent genetics services to
this patient population.
2 | M E TH O DS
2.1 | Recruitment of participants
Participants were recruited from the North York General Hospital
(NYGH) Genetics Program (Toronto, Canada). At this center, genetic
counseling services and targeted carrier screening based on ethnic‐
ity and family history are covered under provincial health insurance.
ECS is routinely discussed with consanguineous couples as a self‐
pay option and is not routinely discussed with couples who are not
consanguineous.
Clients and their partners were eligible to participate in this
study if they had been referred for genetic counseling for the indica‐
tion of consanguinity or referred for advanced maternal age genetic
counseling and reported their consanguineous relationship during
the appointment. Those referred for an additional indication beyond
consanguinity were excluded from this study. Eligible participants
THAIN et al.
were also sufficiently proficient in English to participate in a qualita‐
tive interview and age 18 or older.
Participants were recruited and interviewed over a 6‐month
period from November 2017 to April 2018, throughout which one
of two study team members (KM or CG) was present at the NYGH
Genetics Program. Clients were seen by one three ABGC and CAGC
certified genetic counselors or one genetics nurse.
After the conclusion of each genetic counseling appointment, a
study team member approached eligible clients to describe the pur‐
pose of the study and invite them to participate. The client's partner
was invited to participate in the study if they attended this original
genetic counseling appointment and met all eligibility criteria.
Each participant provided written informed consent prior to his
or her interview. Any trends in the reason for decline were recorded
in a descriptive manner. Ethics approval for this study was received
from North York General (REB# 17‐0029), The Hospital for Sick
Children (REB# 1000058662), and University of Toronto Research
Ethics Boards (REB# 35209).
2.2 | Interviews
Participants were interviewed between 2 and 24 days after their
genetic counseling appointment. Interviews were conducted over
the phone by one investigator (ET) using a semi‐structured inter‐
view guide developed for this study. The guide was informed by a
review of the literature with input from authors with relevant clini‐
cal experience and expertise in qualitative methods. The interview
guide explored participants' expectations for the genetic counseling
session, experiences discussing family history and reproductive risks
with the genetic counselor, attitudes toward reproductive decision
making, and perceptions of ECS. All interviews were audio‐recorded
and transcribed verbatim.
2.3 | Data analysis
Interview transcripts were analyzed using elements from the
Constant Comparative Method (CCM) applied to an interpretive de‐
scriptive approach (Glaser, 1965; Thorne, Kirkham, & MacDonald‐
Emes, 1997). One investigator (ET) generated initial codes, organized
them into categories, and identified themes and subthemes from
these categories. While all participants were interviewed individu‐
ally, their transcripts were analyzed both as individuals and together
with their partner (when applicable) to assess congruency. ET also
compared emerging themes from participants who attended prena‐
tal appointments to those from participants who attended precon‐
ception appointments. Four of 13 transcripts were analyzed by one
additional author (CS or CG) to verify the coding scheme and inter‐
pretation. Data saturation was achieved regarding the main experi‐
ences of couples attending both prenatal and preconception genetic
counseling for consanguinity.
Following analysis, one author (ET) performed participant checking
to ensure that the interpretation aligned with the intended meaning of
|
      3
the participants. Participants who consented to be re‐contacted for
this purpose received a summary of the preliminary findings by phone
and were invited to submit questions or comments.
3 | R E S U LT S
Twenty‐five eligible clients were invited to participate in this study
and of the 16 participants who provided signed informed consent,
13 completed telephone interviews. The most commonly cited rea‐
son for declining participation before or after providing consent
was not having enough time to participate in the full interview.
Characteristics of each participant are summarized in Table 1. Both
males and females completed interviews after attending preconcep‐
tion or prenatal genetic counseling appointments. Of the 13 partici‐
pants, three couples participated in this study. More participants
(n = 8) reported that they or their partner initiated the referral for
genetic counseling rather than their referring healthcare provider.
Most participants reported having no children (n = 8) and no history
of pregnancy loss (n = 11) at the time of the interview. Greater than
half (n = 7) of the participants reported that their partner was a first
cousin, and most participants reported at least one other consan‐
guineous relationship in either their own or their partner's families
(n = 11). Reported ethnicities were heterogeneous, representing
seven different countries. Mean interview length was approximately
53 min, ranging from 34 to 77 min. None of the eight participants
who received a preliminary summary of the findings provided ad‐
ditional comments or questions.
We identified three main themes that emerged from both pre‐
conception and prenatal participants: (a) anticipation balances ap‐
prehension prior to the appointment; (b) genetic counseling reduces
anxiety and empowers; and (c) a need for wider information dissem‐
ination about genetics services for consanguinity. All three couples'
responses were congruent with respect to themes present from the
six individual interviews.
3.1 | Anticipation balances apprehension prior
to the appointment
Participants reported mixed emotions involving both apprehension
and anticipation prior to the appointment. Subthemes that emerged
included: (a) Risk awareness is guided by prior knowledge and avail‐
able informational sources; and (b) anticipatory hope for reassurance
and reduction of uncertainty.
3.1.1 | Risk awareness is guided by prior
knowledge and informational sources
All participants referenced an awareness regarding increased repro‐
ductive risks related to consanguinity, and many described subse‐
quent feelings of nervousness about discussing reproductive risks
and implications for family planning with the genetic counselor.
 |
4      

TA B L E 1   Participant characteristics

Partner's Initiator of Nature of

participant Type of referral to genetic Number of Number of previous consanguineous Number of other consan‐ Reported
Participant number number Gender appointment counselling children pregnancy losses relationship guineous relationshipsa ethnicity

1 2 Male Preconception Patient or Partner 0 0 First cousins 1 Iran

2 1 Female Preconception Patient or Partner 0 0 First cousins 1 Iran
3 N/A Male Prenatal Referring HCP 0 0 Second cousins 1 Sri Lanka
4 N/A Female Preconception Patient or Partner 0 0 First cousins 1 Iran
5 N/A Male Prenatal Referring HCP 1 0 First cousins 0 Sri Lanka
6 N/A Female Prenatal Referring HCP 0 0 First cousins 2+ Pakistan
7 N/A Female Prenatal Patient or Partner 0 0 Half‐first cousins 2+ Iran
once removed
8 N/A Female Preconception Patient or Partner 0 0 First cousins once 0 Iran
removed
9 10 Female Preconception Patient or Partner 1 1 Second cousins 2+ Saudi Arabia
10 9 Male Preconception Patient or Partner 1 1 Second cousins 2+ Afghanistan
11 12 Female Prenatal Referring HCP 1 0 First cousins 1 India (South)
12 11 Male Prenatal Referring HCP 1 0 First cousins 1 India (South)
13 N/A Female Preconception Patient or Partner 0 0 Second cousins 1 Lebanon

Abbreviation: HCP, healthcare provider.

a
Within participant's and partner's families combined.
THAIN et al.
THAIN et al.
…it's a couple of months (sic) I was thinking about
starting a family and whenever we think about it … I
really get nervous or frustrated, like if there is a prob‐
lem with the baby, how we can know about it … it's
not an easy topic to think of, which we knew … you
may have a higher chance of because of … your rela‐
tionship with your partner.
(Participant 2, female, preconception)
Some attributed their apprehension to expectations of receiving
information that would act as a barrier to having biological children.
One participant described preparing herself to hear the genetic coun‐
selor recommend against pursuing a pregnancy:
Just, really anxious, nervous, a little upset too, I think
I was just over‐thinking it … And I don't know if it's
because I … set myself up to hear the worst thing ever
which would be … I couldn't have, I shouldn't … have
children.
(Participant 8, female, preconception)
Participants cited a combination of informational sources contrib‐
uting to their risk awareness including online sources and discussions
with their doctors. Many also described their general understanding of
increased risks as common knowledge in their communities.
Yeah, even before we were married … we know about
the genetic disorders … the chances of it for first
cousins … we knew it even before talking to health‐
care professionals … we were growing up learning
these things.
(Participant 12, male, prenatal)
Another common source of information was the health of children
from other consanguineous couples in the family and community.
Some participants described consanguineous couples they knew who
had children with genetic conditions as contributing to their concerns,
while other participants saw additional consanguineous couples with
healthy children as reassuring:
…my cousins and some of his cousins got married to
their cousins … and their children are fine and they
have a lot of children … so that was OK.
(Participant 9, female, preconception)
3.1.2 | Anticipatory hope for reassurance and
reduction of uncertainty
Despite feeling nervous, participants described feeling hopeful that
the appointment would provide reassurance and reduce their un‐
certainty about risks for a pregnancy. Many were hoping for reas‐
surance through information that was tailored to them as a couple,
|
      5
providing their specific risk, and could be used to guide decisions
about pregnancy and related testing.
…in my family, the extended family, there is a lot of,
marriages between cousins and second cousins and
there are no genetic issues, I still was concerned, so I
wanted to get a consultation and understanding (sic)
the statistics and … the exact relation between us and
our family history, understanding (sic) what kind of an
impact that has, and … if there's further testing or any‐
thing else that we would, would be recommended.
(Participant 7, female, prenatal)
This included learning about tests that would provide such tai‐
lored information both prior to and during pregnancy. Notably, many
preconception participants indicated that they expected to use this
risk information to inform their decision regarding whether or not to
embark on a pregnancy, as highlighted by one participant:
I was expecting … they would tell us about any tests
that are beneficial to, like to help us … decide if we
should get pregnant or not.
(Participant 1, male, preconception)
3.2 | Genetic counseling reduces
anxiety and empowers
Participants described the value and impact of different genetic coun‐
seling roles throughout the appointment, such as establishing rapport,
knowledge of genetics concepts, and comparative framing of risk.
Subthemes that emerged were (a) trust drives dialogue; and (b) out‐
comes include anxiety reduction and empowerment to take action.
3.2.1 | Trust drives dialogue
Participants' trust in the genetic counselor drove dialogue in the ap‐
pointment, which enabled the counselor to provide more tailored in‐
formation to the couple. Specifically, professionalism, competence, and
rapport inspired confidence and trust in the genetic counselor as a re‐
source for information and support. To some, professionalism and com‐
petence were particularly compelling qualities that inspired trust in the
genetic counselor's authority to be a source of scientific information.
…we are not worried to see counselor (sic) because,
they're professional…they're helpful … I trust her
100%, I trust … scientific facts about genetic diseases
and I trust her.
(Participant 10, male, preconception)
Others focused on the rapport between themselves and the coun‐
selor that facilitated trust and made them feel comfortable to speak
openly about their family history and any specific concerns.
 |
6       THAIN et al.
I was really pleased with our genetic counselor. She,
was very professional … there was no judgement …
she made us comfortable discussing matters.
(Participant 2, female, preconception)
Participants valued this comfort and trust as contributing to
the productive exchange of information. One participant described
trust as crucial to the nature of the information she shared in the
appointment:
…she made me feel comfortable … that's somebody I
can trust … it's just about how comfortable you feel
with the person … if you don't get this comfortable
feeling, you're probably going to give false informa‐
tion or you're just don't (sic) want to talk about it.
(Participant 13, female, preconception)
In addition to trust in the genetic counselor, participants' motiva‐
tion to share family history information stemmed from their own need
to share information in order to obtain tailored information.
It's good so that I can tell about everything (sic), we
don't hiding (sic) anything … I share everything with
the counselor so … they can give me some founda‐
tions about that (sic).
(Participant 11, female, prenatal)
One participant articulated this exchange of information as a col‐
laborative effort:
I was kind of looking for an answer, so … I wanted to
provide as much as I knew in order to help her.
(Participant 8, female, preconception)
3.2.2 | Outcomes include anxiety reduction and
empowerment to take action
Trust and dialogue in the session facilitated information‐giving,
which contributed to the two main outcomes of the appointment:
anxiety reduction and empowerment. Obtaining a better under‐
standing of reproductive risks related to consanguinity was closely
tied with feelings of relief and reassurance, as described by these
two participants:
…we were really worried about our child having Down
syndrome and, what was a shock was that … Down
syndrome … like it's not because we're related. It has
other causes, so, that was another relief … So, com‐
ing out of the appointment … I had a better … under‐
standing of the different types of disorders and the
tests that can be done to assure us … I had more infor‐
mation and I was less nervous.
(Participant 1, male, preconception)…it was very in‐
formative and, you know, before this, based on just
conversation, I thought we were low risk but that's not
reassuring and it's not fact‐based, so, it was very, very
good to have this information, be reassured, and really
make … better decisions, based on that.
(Participant 7, female, prenatal)
The genetic counselor's use of comparative framing to general
population risks in the context of a non‐contributory family history fa‐
cilitated a positive perspective, as highlighted by one participant:
…it’s been more calm … because, for example, the per‐
centage that she gave us is not that high compared to
a normal person, so I’d say that’s a good thing to know
… I'm more optimistic than before, honestly.
(Participant 2, female, preconception)
This knowledge of reproductive risks and related testing options
provided a sense of empowerment by giving couples a path for moving
forward.
So, we know … what kind of information to look for,
what kind of tests … we can do … we are happy that
we did it and we are happy with the information that
we, we get (sic) and now we have a path forward …
there are a couple of pre‐screening tests that we can
do … in advance, so at least … we can know the po‐
tential issues that … could come up and then it's eas‐
ier that we have more information in hand to make a
proper decision.
(Participant 2, female, preconception)
Participants viewed self‐pay ECS as a valuable way to understand
risks and provide peace of mind beyond what the genetic counselor
could provide using analysis of the family history. After the appoint‐
ment, many in the preconception group explained that ECS results
would inform reproductive planning and prenatal testing to avoid hav‐
ing a child with a genetic condition.
It will affect our decision, if we know what … carrier
we are for (sic), and how it's gonna affect the quality
of life of the kid … But … at least I have a good piece
of information in hand that can make up my mind, like,
if there's a higher chance that we could have a baby
with genetic disorders, we can think of … other op‐
tions … So then, emotionally it will be hard, but, log‐
ically, it will be easier to make the final decision that
we're gonna have our own kids or do the IVF … or go
for adoption.
(Participant 2, female, preconception)
THAIN et al.
One participant acknowledged the emotional costs associated
with having an affected child and identified ECS as a valuable option to
help avoid this outcome:
We want to do some testing. I know it's hard for us
financially, but … we'd rather we spend money than …
suffer emotionally.
(Participant 9, female, preconception)
Participants in both prenatal and preconception groups acknowl‐
edged barriers to accessing ECS. Financial barriers were the most com‐
monly cited reason for not pursuing ECS, with many indicating that
they would pursue ECS if this test was covered by provincial or private
insurance.
…I called my insurance company to see if had cover‐
age for that, they said I didn't, so now it's kinda like …
should I do the test? Should I not? … I mean, it'd be
nice to do it, but then you look at the, the fee that's
associated … And, yeah, you kinda re‐think it.
(Participant 8, female, preconception)
Notably, those in the prenatal group also recognized the emotional
impact of a positive result as a barrier to pursuing ECS during the on‐
going pregnancy.
…if we were both carriers of something, there would
be a 25% chance of passing that down, so based on all
that … it would be extremely stressful … I would then
not know what to do.
(Participant 7, female, prenatal)
3.3 | Need for wider information dissemination
Many participants commented that limited information was available
prior to their appointment. They identified a need for wider avail‐
ability of genetics information related to consanguinity, suggesting
that information should be available online and through their pri‐
mary healthcare provider.
My first suggestion is … make the information …
more available. Through the family doctors, through
the websites, just have the information ready
for people. Because I looked for it and, I couldn't
find any.
(Participant 1, male, preconception)
While many participants were familiar with the concept of genetic
counseling, most were previously unaware that this service could be
accessed for consanguinity. They also described having little or no in‐
formation about what the genetic counseling appointment would en‐
tail, which contributed to the apprehension previously described. One
participant shared,
|
      7
Before [the] appointment, I was a little bit confused
and, I, thought, what kind of question they ask to us
(sic), and what they think about us…
(Participant 6, female, prenatal)
After the appointment, participants described a sense of duty to
share genetics information from the appointment with their family and
community due to the lack of information about relevant genetics con‐
cepts and services available prior to the appointment. One individual
emphasized the importance of distributing this information within his
community.
It's a word of mouth (sic), you know … I’m a recent immi‐
grant, and … my immediate community is … immigrants
as well, so there's a lot of things that I don't know that I
learn from them … you share your knowledge with them
as well, because they may be in the same situation as you,
somewhere in the line, so you have to share information.
(Participant 12, male, prenatal)
Participants' comments regarding lack of information about ge‐
netics services and responsibility to share information is highlighted
by another participant's description of how he and his partner learned
about genetic counseling:
…we didn't know about this service being available till
… we heard from one of our friends … who knew a
couple that had a similar situation … that friend told
us about this service.
(Participant 1, male, preconception)
Furthermore, participants would have preferred genetic counseling
at an earlier stage of their relationship and suggested more effective
referral methods to increase access to counseling before a pregnancy,
or even before marriage.
…I wasn't aware of it … I would have loved to know
about it before … I got pregnant … I knew it was pos‐
sible for someone to go through genetic testing but I
didn't know it's possible for, two people, actually have
(sic) a genetic consult before … pregnancy.
(Participant 7, female, prenatal)
4 | D I S CU S S I O N
This is the first study to explore the experiences of couples who
attend prenatal or preconception genetic counseling for consan‐
guinity, and their perspectives on self‐pay ECS for this indication.
Prior to the appointment, couples reported conflicting emotions of
apprehension guided by different informational sources that con‐
tributed to risk awareness, and anticipatory hope for reassurance.
Both preconception and prenatal groups described prior awareness
 |
8       THAIN et al.
of increased reproductive risks related to consanguinity, suggesting
that this is a broadly acknowledged concept among consanguineous
couples and is modulated by experiences with other consanguineous
couples in the community. This finding is supported by increasing
public awareness of consanguinity‐related risks (Hamamy, 2012) and
previous research identifying experience as a key factor that impacts
consanguineous couples' approaches to risk management in preg‐
nancy (Shaw, 2011). Additionally, it highlights the value of genetic
counselors exploring clients' sources of risk awareness and the im‐
pact on risk perception (Shaw & Hurst, 2008).
Participants' trust in the genetic counselor supported dialogue
and comfort in sharing family history information. Interestingly, no
participants commented on the ethnicity of their counselor, all of
whom were Caucasian. This supports an alternative perspective
from previous reports that suggest a genetic counselor from an eth‐
nic community similar to that of the consanguineous couple is an
important element in the provision of culturally‐competent genet‐
ics services (Bittles, 2001; Khan et al., 2010). While this does not
eliminate the possibility of the counselors' ethnicities impacting
the genetic counseling discussion, we report other factors, namely
professionalism and rapport with the clients, that contributed to
this trust and dialogue. This finding may be due to the counselors'
comfort and experience in providing genetic counseling within our
ethnically diverse study setting, or the ethnically diverse setting
impacting participants' perceptions. Nevertheless, it suggests that
competency and a non‐judgmental approach are essential to estab‐
lishing trust in the appointment and successfully delivering this ge‐
netics service, as proposed by Bittles (2001).
Trust and dialogue in the appointment allowed the counselor
to provide tailored information guided by the client's informational
needs, which reduced participants' anxiety and empowered them to
make informed decisions. This process and outcome reflect strate‐
gies and behaviors consistent with the reciprocal‐engagement model
of genetic counseling (McCarthy Veach, Bartels, & LeRoy, 2007) and
is supported by findings that client anxiety decreases when expecta‐
tions of reassurance are met in the appointment (Michie, Marteau, &
Bobrow, 1997). Trust and dialogue may have also contributed to the
participants' empowerment and confidence in the risk information
provided through genetic counselling—an outcome that contrasts
with previous studies reporting consanguineous couples' skepticism
of reproductive risk information provided by genetics services (Shaw
& Hurst, 2008).
Many participants also described their genetic counselor's use
of comparative framing as reassuring by modifying their views of re‐
productive risk. This is a common genetic counseling tool known to
modulate perceptions of genetic risk (Shiloh & Sagi, 1989). However,
participants in this study also described a non‐contributory family
history as adding to their relief and reassurance. This suggests an in‐
complete understanding of autosomal recessive inheritance and the
insignificance of an unremarkable family history, which is consistent
with previously reported patient attitudes toward carrier screening
for cystic fibrosis (McClaren, Delatycki, Collins, Metcalfe, & Aitken,
2008). Importantly, this finding highlights the counseling challenge
of linking autosomal recessive inheritance to consanguineous rela‐
tionships, as previously reported by Darr et al. (2016).
While NSGC guidelines do not recommend genetic testing solely
based on consanguinity (Bennett et al., 2002), our study found that
couples valued discussing testing options and viewed ECS as a valu‐
able way to understand personalized risks. These views align with
a growing body of evidence on clients' positive attitudes toward
ECS (Henneman et al., 2016; Verdonk, Metselaar, Storms, & Bartels,
2018), and support the assertion that ethnicity or religion should not
be used to assume attitudes toward prenatal diagnosis and preg‐
nancy termination (Ahmed, Green, & Hewison, 2006). Additionally,
our participants indicated that positive ECS results would alter re‐
productive decisions, such as use of preimplantation genetic testing
or prenatal diagnosis, a finding consistent with recent studies high‐
lighting the clinical utility of ECS. Ghiossi et al. (2018) demonstrated
the impact of ECS results on couples' reproductive decisions in the
general population, while Verdonk et al. (2018) found that many
women in consanguineous marriages wanted this personalized risk
information to prepare for possible health concerns of a child, sup‐
porting clinical utility independent of altered reproductive decisions.
Finally, our results are consistent with recent reports that emphasize
the importance of informed choice in ECS and discussion of testing
options (Grody et al., 2013; Henneman et al., 2016).
Participants in both the preconception and prenatal groups
identified financial barriers to pursuing ECS. Notably, the prenatal
group also cited the emotional impact of being identified as an at‐
risk couple as a barrier to pursuing ECS. This finding may reflect the
fact that those in the prenatal group considered the impact of this
information on an ongoing pregnancy and the prospect of this in‐
formation leading to additional difficult decisions. This approach to
decision‐making has been previously noted in pregnant women who
decline prenatal diagnosis (Liamputtong, Halliday, Warren, Watson,
& Bell, 2003). Financial costs associated with carrier testing have
been previously identified as a barrier to access, not only for the as‐
sociated fee, but also because privately funded testing may be per‐
ceived as less important than publicly funded tests (Sukenik‐Halevy,
Leil‐Zoabi, Peled‐Perez, Zlotogora, & Allon‐Shalev, 2012). This idea
is supported by the notion that public coverage of a test such as
ECS would be required for consanguineous couples to consistently
access this service (Shalev, 2018).
This study builds on previous research identifying limited aware‐
ness of genetic concepts and services relevant to consanguinity, and
a need for greater visibility of these services to facilitate earlier ac‐
cess to counseling (Khan et al., 2010; Teeuw et al., 2014; Verdonk et
al., 2018). Furthermore, participants' preference for genetic counsel‐
ing earlier in the relationship combined with limited awareness of ge‐
netics services offers an alternative explanation to delayed access to
counseling, rather than perceived stigmatization of consanguineous
marriage acting as a barrier to access reported by Shaw and Hurst
(2008). This alternative explanation is supported by limited knowl‐
edge of premarital screening and genetic counseling in countries
where consanguinity is widely accepted (Ibrahim et al., 2013), as
well as a recent report that genetic reproductive risk factors are not
THAIN et al.
consistently identified as an indication for referral to genetic coun‐
seling in the United States (McClatchey, Lay, Strassberg, & Veyver,
2018). Participants' commitment to sharing information from the ap‐
pointment with their family and community also highlights the need
for more informational resources related to consanguinity. These
community networks may be a valuable avenue for information dis‐
semination about genetics concepts and services (Darr et al., 2016).
Many participants in our study indicated a preference for genetic
counseling earlier in their relationship, such as before pregnancy, or
prior to marriage. This finding is consistent with data reported by
Teeuw et al. (2014), who surveyed Dutch respondents of Turkish or
Moroccan descent. Verdonk et al. (2018) also reported similar find‐
ings supporting the use of premarital genetics services by consan‐
guineous communities. Interestingly, Saffi and Howard (2015) found
that while premarital genetic counseling and thalassemia screening
programs did not effectively discourage at‐risk marriages, programs
that offered prenatal diagnosis and pregnancy termination saw a
reduction in affected births. Thus, premarital and preconception
genetic counseling may be effective approaches to meet the infor‐
mational needs regarding reproductive risk and testing options in
this patient population.
4.1 | Study limitations
Our study is based on a sample of 13 ethnically diverse participants
who were proficient in English from a single genetics center. Individuals
who declined to participate may have reported different experiences
and perspectives on genetic counseling and testing. Given the explora‐
tory nature of this qualitative study, our findings are not generalizable
to all populations in which consanguinity is favored. The experiences
reported from before and during the appointments were retrospec‐
tive and therefore vulnerable to recall bias. However, the interviews
took place within a 2 to 24‐day time period from the date of genetic
counseling. Many questions regarding ECS and implications on repro‐
ductive decisions were hypothetical in nature, which may have elicited
different responses than would arise in actual situations.
4.2 | Practice implications
Our findings highlight the personal utility of genetic counseling
for consanguinity. They also demonstrate the need for increased
visibility of genetics services and access to genetics information
relevant to consanguinity. As genetic counselors strive to help
patients understand and adapt to genetic risks, they are well‐
positioned to contribute to the creation and distribution of such
resources in ways that extend beyond in‐person clinical encoun‐
ters. Additionally, our findings reveal opportunities to optimize
the timing of patient referrals to genetics so that consanguineous
couples can access genetic counseling at a stage in their relation‐
ship in which this information is most valuable. This will require
wider information dissemination and collaboration with both pri‐
mary and other healthcare providers. Finally, this study identifies
a need for updated NSGC guidelines for genetic counseling of
|
      9
consanguineous couples that address new testing options made
available since 2002, such as chromosomal microarray and ECS,
and to incorporate input from consanguineous couples.
4.3 | Research recommendations
There is limited literature on the perspectives of consanguineous
couples regarding genetic counseling and ECS. Larger studies ex‐
ploring the experiences of consanguineous couples who pursue
genetic counseling and ECS would expand on these findings by
providing insight into the utility of ECS specifically for this popula‐
tion, including the frequency that at‐risk couples are identified and
how results impact reproductive decisions. This mixed‐methods
approach would also generate valuable data that may help other
consanguineous couples make informed decisions regarding this
testing. Second, a large study that includes non‐consanguineous
controls would allow for a comparison of the needs, attitudes, and
experiences of this population to others with similar characteris‐
tics (i.e. age, ethnic background, immigrant status). Additionally,
future studies could examine the utility of different educational
resources designed for consanguineous couples who are pregnant
or planning a pregnancy.
5 | CO N C LU S I O N S
This qualitative study of consanguineous couples who attended
preconception and prenatal genetic counseling found that (a) antici‐
pation balances apprehension before the appointment; (b) genetic
counseling reduces anxiety and empowers; and identified a (c) need
for wider information dissemination about genetic counseling for
consanguinity. Our findings support the personal utility of genetic
counseling for consanguinity and demonstrate the need for in‐
creased visibility and access to genetics information, counseling, and
testing relevant to this patient population.
AU T H O R C O N T R I B U T I O N S
This research project was designed by Emily Thain (ET) with input
from Clare Gibbons (CG), Cheryl Shuman (CS), Kristen Miller (KM),
Karen Sappleton (KS), Diane Myles‐Reid (DMR), and David Chitayat
(DC). Qualitative interviews were performed by ET. Transcripts were
analyzed by ET with themes validated by CS and CG. The manuscript
was drafted by ET. CG, CS, KM, KS, DMR, and DC revised the work
critically for intellectual content. ET, CG, CS, KM, KS, DMR, and DC
approved the final version to be published, and agree to be account‐
able for all aspects of the work.
AC K N OW L E D G E M E N T S
We thank the participants who willingly gave their time to share their
opinions and experiences with us. We thank the North York General
Genetics Program through which recruitment was possible. This
 |
10       THAIN et al.
research was completed as a part of the MSc Genetic Counselling
graduation requirements and was funded by the University of
Toronto MSc Genetic Counselling Fund.
C O M P L I A N C E W I T H E T H I C A L S TA N DA R D S
Conflict of interest
The authors Emily Thain, Cheryl Shuman, Kristen Miller, Karen
Sappleton, Diane Myles‐Reid, David Chitayat, and Clare Gibbons de‐
clare that they have no conflict of interest.
Human studies and informed consent
All procedures followed were in accordance with the ethical stand‐
ards of the responsible committee on human experimentation (insti‐
tutional and national) and with the Helsinki Declaration of 1975, as
revised in 2000 (5). Informed consent was obtained from all patients
for being included in the study.
Animal studies
No animal studies were carried out by the authors for this article.
ORCID
Emily Thain  https://orcid.org/0000-0002-8347-9998
REFERENCES
Ahmed, S., Green, J. M., & Hewison, J. (2006). Attitudes towards prenatal
diagnosis and termination of pregnancy for thalassaemia in pregnant
Pakistani women in the North of England. Prenatal Diagnosis, 26(3),
248–257. https​://doi.org/10.1002/pd.1391
Bennett, R. L., Motulsky, A. G., Bittles, A., Hudgins, L., Uhrich, S., Doyle,
D. L., …Olson, D. (2002). Genetic counseling and screening of con‐
sanguineous couples and their offspring: Recommendations of the
national society of genetic counselors. Journal of Genetic Counseling,
11(2), 97–119. https​://doi.org/10.1023/A:10145​93404915
Bittles, A. H. (1994). The role and significance of consanguinity as a de‐
mographic variable. Population and Development Review, 20(3), 561.
https​://doi.org/10.2307/2137601
Bittles, A. (2001). Consanguinity and its relevance to clinical genetics. Clinical
Genetics, 60(2), 89–98. https​://doi.org/10.1034/j.1399-0004.2001.
600201.x
Bittles, A. H., & Black, M. L. (2010). The impact of consanguinity on neo‐
natal and infant health. Early Human Development, 86(11), 737–741.
https​://doi.org/10.1016/j.earlh​umdev.2010.08.003
Committee Opinion No. 690. (2017). Obstetrics & Gynecology, 129(3),
e35–e40. https​://doi.org/10.1007/s10897-017-0160-1
Darr, A., Small, N., Ahmad, W. I., Atkin, K., Corry, P., & Modell, B. (2016).
Addressing key issues in the consanguinity‐related risk of autosomal
recessive disorders in consanguineous communities: Lessons from a
qualitative study of British Pakistanis. Journal of Community Genetics,
7, 65–79. https​://doi.org/10.1007/s12687-015-0252-2
Ghiossi, C. E., Goldberg, J. D., Haque, I. S., Lazarin, G. A., & Wong, K. K.
(2018). Clinical utility of expanded carrier screening: Reproductive
behaviors of at‐risk couples. Journal of Genetic Counseling, 27(3), 616–
625. https​://doi.org/10.1007/s10897-017-0160-1
Glaser, B. G. (1965). The constant comparative method of qualitative
analysis. Social Problems, 12(4), 436–445. https​://doi.org/10.2307/
798843
Grody, W. W., Thompson, B. H., Gregg, A. R., Bean, L. H., Monaghan,
K. G., Schneider, A., & Lebo, R. V. (2013). ACMG position statement
on prenatal/preconception expanded carrier screening. Genetics in
Medicine, 15(6), 482–483. https​://doi.org/10.1038/gim.2013.47
Hamamy, H. (2012). Consanguineous marriages preconception consulta‐
tion in primary health care settings. Journal of Community Genetics, 3,
185–192. https​://doi.org/10.1007/s12687-011-0072-y
Hamamy, H., Antonarakis, S. E., Cavalli‐Sforza, L. L., Temtamy, S.,
Romeo, G., Ten Kate, L. P., … Bittles, A. H. (2011). Consanguineous
marriages, pearls and perils: Geneva International Consanguinity
Workshop Report. Genetics in Medicine, 13( 9), 841–847. https​://doi.
org/10.1097/gim.0b013​e3182​17477f
Henneman, L., Borry, P., Chokoshvili, D., Cornel, M. C., Van El, C. G.,
Forzano, F., … Peterlin, B. (2016). Responsible implementation of ex‐
panded carrier screening. European Journal of Human Genetics, 24(6),
e1–e12. https​://doi.org/10.1038/ejhg.2015.271
Hussain, R. (1999). Community perceptions of reasons for preference for
consanguineous marriages in Pakistan. Journal of Biosocial Science,
31(4), 449–461. https​://doi.org/10.1017/s0021​93209​9004496
Ibrahim, N. K., Bashawri, J., Al Bar, H., Al Ahmadi, J., Al Bar, A., Qadi,
M., …Feda, H. (2013). Premarital screening and genetic coun‐
seling program: Knowledge, attitude, and satisfaction of at‐
tendees of governmental outpatient clinics in Jeddah. Journal of
Infection and Public Health, 6(1), 41–54. https​://doi.org/10.1016/
j.jiph.2012.05.001
Khan, N., Benson, J., MacLeod, R., & Kingston, H. (2010). Developing and
evaluating a culturally appropriate genetic service for consanguine‐
ous South Asian families. Journal of Community Genetics, 1(2), 73–81.
https​://doi.org/10.1007/s12687-010-0012-2
Liamputtong, P., Halliday, J. L., Warren, R., Watson, L. F., & Bell, R. J.
(2003). Why do women decline prenatal screening and diagnosis?
Australian women'sperspective. Women & Health, 37(2), 89–108.
https​://doi.org/10.1300/j013v​37n02_06
McCarthy Veach, P. M., Bartels, D. M., & LeRoy, B. S. (2007). Coming
full circle: A reciprocal engagement model of genetic counsel‐
ing practice. Journal of Genetic Counseling, 16(6), 713–728. https​://
doi.org/10.1007/s10897-007-9113-4
McClaren, B. J., Delatycki, M. B., Collins, V., Metcalfe, S. A., & Aitken,
M. (2008). ‘It is not in my world’: An exploration of attitudes and in‐
fluences associated with cystic fibrosis carrier screening. European
Journal of Human Genetics, 16, 435–444. https​://doi.org/10.1038/
sj.ejhg.5201965
McClatchey, T., Lay, E., Strassberg, M., & Van den Veyver, I. B. (2018).
Missed opportunities: Unidentified genetic risk factors in prenatal care.
Prenatal Diagnosis, 38(1), 75–79. https​://doi.org/10.1002/pd.5048
Michie, S., Marteau, T. M., & Bobrow, M. (1997). Genetic counselling: The
psychological impact of meeting patients' expectations. Journal of
Medical Genetics, 34, 237–241. https​://doi.org/10.1136/jmg.34.3.237
Modell, B., & Darr, A. (2002). Genetic counselling and customary consan‐
guineous marriage. Nature Reviews Genetics, 3(3), 225–229. https​://
doi.org/10.1038/nrg754
Posch, A., Springer, S., Langer, M., Blaicher, W., Streubel, B., & Schmid,
M. (2012). Prenatal genetic counseling and consanguinity. Prenatal
Diagnosis, 32, 1133–1138. https​://doi.org/10.1002/pd.3971
Saffi, M., & Howard, N. (2015). Exploring the effectiveness of manda‐
tory premarital screening and genetic counselling programmes for
β‐thalassaemia in the Middle East: A scoping review. Public Health
Genomics, 18, 193–203. https​://doi.org/10.1159/00043​0 837
Sandridge, A. L., Takeddin, J., Al‐Kaabi, E., & Frances, Y. (2010).
Consanguinity in Qatar: Knowledge, attitude and practice in a
THAIN et al.
population born between 1946 and 1991. Journal of Biosocial Science,
42(1), 59–82. https​://doi.org/10.1017/s0021​93200​999023x
Shalev, S. A. (2018). Characteristics of genetic diseases in consanguineous
populations in the genomic era: Lessons from Arab communities in North
Israel. Clinical Genetics, 95, 3–9. https​://doi.org/10.1111/cge.13231​
Shaw, A. (2011). Risk and reproductive decisions: British Pakistani cou‐
ples' responses to genetic counselling. Social Science & Medicine, 73,
111–120. https​://doi.org/10.1016/j.socsc​imed.2011.04.011
Shaw, A. (2014). Drivers of cousin marriage among British Pakistanis.
Human Heredity, 77, 26–36. https​://doi.org/10.1159/00035​8 011
Shaw, A., & Hurst, J. A. (2008). “What is this genetics, anyway?”
Understandings of genetics, illness causality and inheritance among
British Pakistani users of genetic services. Journal of Genetic Counseling,
17(4), 373–383. https​://doi.org/10.1007/s10897-008-9156-1
Sheridan, E., Wright, J., Small, N., Corry, P. C., Oddie, S., Whibley, C.,
…Parslow, R. C. (2013). Risk factors for congenital anomaly in a multieth‐
nic birth cohort: An analysis of the born in Bradford study. Lancet, 382,
1350–1359. https​://doi.org/10.1097/01.ogx.00004​44677.89257.bb
Shiloh, S., & Sagi, M. (1989). Effect of framing on the perception of ge‐
netic recurrence risks. American Journal of Medical Genetics, 33, 130–
135. https​://doi.org/10.1002/ajmg.13203​3 0121​
Sukenik‐Halevy, R., Leil‐Zoabi, U. A., Peled‐Perez, L., Zlotogora, J., &
Allon‐Shalev, S. (2012). Compliance for genetic screening in the
Arab population in Israel. The Israel Medical Association Journal, 14(9),
538–542.
|
      11
Teeuw, M. E., Loukili, G., Bartels, E. A., Ten Kate, L. P., Cornel, M. C.,
& Henneman, L. (2014). Consanguineous marriage and reproductive
risk: Attitudes and understanding of ethnic groups practising con‐
sanguinity in Western society. European Journal of Human Genetics,
22, 452–457. https​://doi.org/10.1038/ejhg.2013.167
Thorne, S., Kirkham, S. R., & MacDonald‐Emes, J. (1997). Interpretive
description: A noncategorical qualitative alternative for de‐
veloping nursing knowledge. Research in Nursing & Health,
20, 169–177. https​ : //doi.org/10.1002/(sici)1098-240x(19970​
4)20:23.0.co;2-i
Verdonk, P., Metselaar, S., Storms, O., & Bartels, E. (2018). Reproductive
choices: A qualitative study of Dutch Moroccan and Turkish consan‐
guineously married women’s perspectives on preconception carrier
screening. BMC Women's Health, 18, 79. https​ ://doi.org/10.1186/
s12905-018-0574-4
How to cite this article: Thain E, Shuman C, Miller K, et al.
Prenatal and preconception genetic counseling for
consanguinity: Consanguineous couples' expectations,
experiences, and perspectives. J Genet Couns. 2019;00:1–11.
https​://doi.org/10.1002/jgc4.1150