This study aims to investigate whether the clinically validated population based expanded preconception carrier screening (PCS) test, developed by the Department of Genetics of the UMCG, can be implemented responsibly via the general practitioner as…
ID
Source
Brief title
Condition
- Chromosomal abnormalities, gene alterations and gene variants
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
1. psychological impact and informed choice
2. uptake
3. practical feasibility (GP)
Ad 1.
Psychological impact and informed choice
Receiving information about the PCS test may, raise a couple*s awareness of the
risk of having a child with a severe disorder. This awareness, in addition to
having to make a decision whether to take the test or not may evoke adverse
psychological reactions with both an emotional (anxiety, distress) and/or
cognitive (rumination, decisional conflict) nature.
Both couples who take the test as well as those who decide not to, immediately,
or after consultation of the GP, may experience adverse psychological
reactions.
The broader literature on receiving genetic risk information and genetic
counselling and testing shows that in general the psychological impact is
moderate or at best short lived (Haga et al, 2014). To date, however, no
studies have been conducted examining the psychological reactions of
prospective parents without a positive family history to expanded PCS.
In general, implementation a test, such as the PCS test, is acceptable from a
psychological point of view, if psychological effects on population level are
limited and if the level of knowledge of the population that gets the
information is such that the decision on whether or not to take the test is
based on an informed one. This implementation study is meant to investigate
the impact on those couples who are offered the test, might take the test, but
who are not a carrier couple. This concerns the large majority of our study
population, since only 1-3 couples are expected to be a carrier couple. The
impact on this group is relevant to measure, since the positive consequences of
the PCS offer and taking the test, (increasing reproductive autonomy), for a
small group (1 in 150 couples who take the test) need to be balanced against
the burden of offering the test to the whole population that gets the offer.
Informed Choice:
Similar as in studies on prenatal screening, in a study which investigates the
implementation of a preconception screening test, informed choice is an
important objective (Marteau et al., 2001). The aim of this offer of PCS
screening is not to reach the highest uptake as possible, as is the case in for
example newborn screening. On the contrary, its aim is to increase reproductive
autonomy, by letting the couples decide for themselves whether or not they want
to participate in the test. This choice to take the test or not should
optimally be an informed choice, meaning that both partners have the correct
knowledge on the essential aspects of the test and have an attitude towards
screening which corresponds to their choice whether or not to participate
Methods:
When examining the psychological impact of PCS, the study aims are:
a) to examine short term psychological reactions to receiving information about
the offer of PCS testing (T0)
b) to examine short term psychological reactions to having received counselling
from the GP (T1)
c) to examine short term psychological reactions to having taken the test ( T2)
d) to examine long term psychological reactions six months after having
received information/having had GP counselling/having taken the test
Measures:
Positive and Negative Affect Schedule (PANAS; Watson et al, 1988)
Short version of the State-Trait Anxiety Inventory Scale (STAI-6; Marteau et
al, 1992)
Decisional Conflict Scale (Koedoot et al., 2001)
Knowledge and informed choice will be measured with specifically designed
self-constructed items for the PCS test, based on the literature. This will be
measured after the GP consultation, irrespective of whether or not the couple
decides to take the test.
All patients who are asked to participate in the research will also be offered
a free PCS test. They are asked to fill in a maximum of four questionnaires,
taking about 15-20 minutes each.
T0: after the offer of the PCS test (all)
T1: after the GP consultation (only those couples who visited their GP)
T2: after having done the PCS (only those couples who took the test)
T3: 6 months after having filled in the last questionnaire (all respondents at
T0)
Ad 2.
To measure the uptake, the number of participants per step in the protocol will
be recorded and related to the total number of women and their partners who
were invited to participate.
1) What percentage of invited women/couples reads the information leaflet and
what percentage visits the website?
2) What percentage of couples attends a GP consultation?
3) What percentage of invited women/couples takes the test?
Ad 3: Practical feasibility
To study the practical feasibility, the PCS offer by the GP within the primary
health care system will be evaluated. In order to investigate this, GPs will
be asked to fill in a survey and they will also be asked to participate in an
in depth interview on the following aspects:
- Time spent on the selection of patients, inviting the patients, counseling
(pre-test counseling and communication of the test result)
- What are the GP*s experiences concerning their own pre-test counseling skills
(after having participated in the training and if needed after additional
training during the study)
- What are their opinions on taking up the offer of PCS in their regular
practice within the standard care of the preconception consultation. What are,
according to them, the barriers and benefits of this offer of PCS via the GP,
and what can be done to overcome these barriers, and what could be solutions to
problems that may arise.
Furthermore, the proportion of GP*s who need additional supervision from the
genetic counselor during the study will be recorded as well as the proportion
of couples who request additional counseling by the genetic counselor after
having had the GP consultation
Secondary outcome
not applicable
Background summary
The department of Genetics of the UMCG has developed a PCS test which has not
yet been implemented in either the Dutch or European regular health care system
as offer to the general population. The PCS tests that are currently offered,
usually test for one or a few conditions, such as Tay Sachs and Cystic
Fibrosis. Due to the introduction of next generation sequencing (NGS) it is,
however, now possible to screen for many genes or conditions simultaneously
while the costs of this type of screening are declining rapidly.
A PCS test for the whole population that screens for several conditions
simultaneously is currently not routinely offered in Dutch health care, nor in
surrounding countries. The test provides information about carrier status of 70
autosomal recessive conditions. The PCS test only includes those diseases which
are characterized as very severe, early onset and untreatable. The test will be
provided to the couples with a child wish from the general population by their
general practitioner.
The UMCG*s PCS test will detect an increased risk (both partners of a couple
being a carrier for the same disease) in approximately 1 per 150 couples. These
couples have a 1 in 4 risk with each pregnancy that their child will have one
of the severe autosomal recessive conditions being screened for. These carrier
couples can, if they so wish, avoid the birth of an affected child for example
by making use of IVF with embryo selection (pre-implantation genetic diagnosis,
PGD) or prenatal diagnostics. Other options include making use of a gamete
donor or to refrain from having children with this partner. Given the fact that
the offer of the, technically validated, PCS test to the general population is
new, little is known about the uptake, feasibility and psychological impact of
the test for potential participants and providers, in this case the GPs.
GPs have been selected to be the preferential provider of this test by both
prospective participants as well as prospective providers of the test due to
various reasons. The implementation study aims to investigate all three
abovementioned aspects, uptake, psychological impact and practical feasibility.
Given the interest for these kinds of screening tests both from the society at
large as well as from politics, and therefore the high probability that these
will be implemented in the national healthcare system, it is necessary to get
experience on the implementation of these test in a small setting first, before
recommendations can be given for nation-wide implementation. The research
protocol of this implementation study is based on prior research and
recommendations from investigations by our research group on the ethical,
psychological and practical aspects, as well as on studies from the literature
on similar, but slightly different PCS tests.
Study objective
This study aims to investigate whether the clinically validated population
based expanded preconception carrier screening (PCS) test, developed by the
Department of Genetics of the UMCG, can be implemented responsibly via the
general practitioner as part of preconception care for couples wishing to have
a child. Responsible implementation of this test will be evaluated by studying:
a) psychological impact
b) uptake
c) practical feasibility.
Study design
It is an observational study. Participants will be asked to fill in a minimum
of two to a maximum of four questionnaires at various defined time points
during the study period. These questionnaires consist of validated as well as
self-constructed items. Participants are also offered to have the PCS test (for
free).
The implementation study will take place within the GP practices of 10-15 GPs
in the northern part of the Netherlands, who have been trained for this before
the start of the study.
The test will be offered as part of preconception care, which is already part
of the GP standard care (NHG standard preconceptiezorg) (het
*preconceptieconsult*). Couples who wish to have a child together are given
advice aimed at creating a healthy pregnancy.
All female patients between the age of 18-40 of the participating GP practices
will receive an offer to have the PCS test (for free) with their partner. The
couples will receive an information leaflet as well as a link to the website
www.dragerschapstest.umcg.nl where they can find additional information and can
ask questions concerning participation in the research.
If they are interested in taking the test, they will first need to make an
appointment for a consultation with the GP to discuss the offer. In case the
GPs need assistance or require supervision for these pre-test counseling
sessions, a genetic counselor will be available from the department of Clinical
Genetics. After the GP consultation, a couple can have their blood drawn for
the PCS test. Results will be sent to the GP within 8 weeks and are disclosed
to the couple by the GP, after which the couple can be directed to the
department of Clinical Genetics if indicated (if both partners turn out to be a
carrier for the same disease or if they need additional post-test counseling).
Study burden and risks
The burden of participation is minimal for the majority of the study population
(2 questionnaires with an average duration of 15-20 minutes). The burden is
slightly higher for those respondents (approximately 10-25% of study
population) who visit their GP to talk about the decision whether or not to
take the PCS test (3 questionnaires, 1 consult with GP). For the respondents
who decide to take the PCS test (approximately 5-20% of study population), the
burden is highest (4 questionnaires, 1 consult with GP, 1 blood test).The
physical risks attributed to the blood test are negligible. Based on the
literature, the psychological impact is expected to be moderate and short
lived, however, since this will be the first time such a population based
expanded carrier screening test is offered, measuring the psychological impact
will be part of the investigation.
Antonius Deusinglaan 1
groningen 9713 AV
NL
Antonius Deusinglaan 1
groningen 9713 AV
NL
Listed location countries
Age
Inclusion criteria
1 be a female patient from one of the participating GPs
2 aged 18-40
3 have a partner
4 have a wish to have children with that partner
5 and: male partners of these females
Exclusion criteria
women who are already pregnant
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL54060.042.15 |