Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive‐aged women in Flanders (Belgium)

Abstract

Reproductive genetic carrier screening (RGCS) allows to identify couples who have an increased likelihood of conceiving a child affected with an autosomal recessive or X‐linked monogenic condition. Multiple studies have reported on a wide and fragmented set of reasons to accept or decline RGCS. Only a few studies have been performed to assess the uptake of RGCS. Nonpregnant women visiting their gynecologist were invited to complete a questionnaire assessing perceived susceptibility, the acceptability of offering RGCS, attitudes, the intention to participate in RGCS, reasons to accept or decline RGCS, and sociodemographic characteristics. Women who showed the intention to have RGCS were asked to consider a free RGCS offer. Most women (n = 127) were between 25 and 34 years old (60%), in a relationship (91%), and wanted to have children (65%). Study participants had positive attitudes towards RGCS and the intention to consider RGCS in the future. Reasons to accept RGCS were being able to share genetic information with children or relatives (n = 104/127, 82%), to prevent the birth of a child affected with a hereditary condition (n = 103/127, 81%), and/or to know the chance of conceiving a child with a hereditary condition (n = 102/127, 80%). Reasons for declining RGCS were the possible concerns that could arise when receiving test results (n = 27/127, 21%), having no family history of hereditary disorders (n = 19/127, 15%), and not wanting to take action based on test results (n = 13/127, 10%). Among test intenders that met the inclusion criteria, 53% decided to participate in RGCS together with their male reproductive partner. More in‐depth research on the decision‐making process behind the choice to accept or decline an RGCS offer would be highly valuable to make sure couples are making informed reproductive choices.

Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review

“…Forty-three percent of reviewed articles agreed that pre-test counselling for RGCS should be thorough and consistent, including two prospective user [ 32 , 47 ], 11 retrospective user [ 29 , 36 , 37 , 39 , 41 , 48 , 49 , 50 , 51 , 52 , 53 ] and three genetic HCP [ 30 , 43 , 44 ] studies. Forty-three percent of articles agreed that post-test counselling for RGCS should be thorough and consistent, including one prospective user [ 54 ], 11 retrospective user [ 26 , 28 , 29 , 33 , 36 , 37 , 39 , 40 , 49 , 52 , 55 ] and four genetic HCP [ 30 , 43 , 44 , 45 ] studies.…”

“…Accessibility to specialist clinicians [ 48 ], support groups and patient families [ 27 ] were also recommended by two of the reviewed articles. Sensitivity and exploration around the reproductive options available to carrier couples and individuals was raised by 35% of all reviewed articles, with all stakeholder groups represented [ 25 , 28 , 29 , 30 , 33 , 36 , 48 , 49 , 53 , 54 , 55 , 57 , 58 ].…”

“…The importance of including the limitations of RGCS were raised by 32% of the reviewed articles including one prospective user [ 54 ], 9 retrospective user [ 26 , 34 , 36 , 37 , 41 , 50 , 53 , 55 , 56 ] and two genetic HCP [ 27 , 57 ] studies. A single genetic HCP study [ 57 ] and four retrospective user studies [ 26 , 36 , 37 , 50 ] recommended that residual risk should be articulated during both pre- and post-test counselling.…”

“…There were three studies that identified HCPs lacking in knowledge and confidence regarding RGCS as an area for concern [ 43 , 45 , 46 ]. Nineteen per cent of the reviewed articles, all of which were retrospective user studies, found that the attitude of the HCP offering RGCS can influence patient decision-making in relation to the uptake of screening and subsequent reproductive decisions [ 26 , 34 , 35 , 36 , 41 , 48 , 53 ]. Almost 40% of the studies, including eight retrospective user [ 26 , 28 , 31 , 34 , 39 , 40 , 48 , 49 ], 5 genetic HCP [ 27 , 30 , 43 , 45 , 57 ] and two non-genetic HCP [ 31 , 46 ] studies referred to the importance or underutilization of referral to genetic HCPs for at-risk or carrier couples or individuals following RGCS.…”

“…A number of studies recognized the utility of alternatives to traditional face-to-face genetic counselling. Alternative methods such as written information leaflets, videos, and telehealth were used or mentioned by 46% of studies involving all stakeholder groups for the purposes of pre-test counselling [ 24 , 26 , 27 , 28 , 31 , 32 , 33 , 36 , 37 , 38 , 39 , 40 , 44 , 49 , 53 , 54 , 59 ]. In contrast, only 16% of studies mentioned or used similar alternative methods in relation to post-test counselling for RGCS [ 24 , 25 , 30 , 31 , 39 , 40 ] with all stakeholders represented, bar the prospective users.…”