Psychosocial aspects of preconception consultation in primary care: lessons from our experience in clinical genetics

Abstract

To date, little is known about the psychosocial aspects of preconception consultation (PCC) in primary care. PCC in primary care is appropriate for couples and individuals with a reproductive wish. In PCC, non-genetic and genetic risk factors may be identified. Focusing on non-genetic and genetic risk factors in PCC requires the use of different counselling strategies and tools in optimizing the outcome of pregnancy. Addressing lifestyle alterations requires directive counselling, whereas addressing increased genetic risk and its subsequent reproductive options requires non-directiveness. When an increased genetic risk is detected, couples should be informed about their possibilities for not passing on a disease allele. Depending upon the various modes of inheritance and reproductive options, couples may face a variety of psychosocial challenges. This paper aims to provide insights into the psychosocial impact of the genetic aspects of PCC by drawing upon literature and clinical experience in the Clinical Genetics department. Furthermore, this paper provides consideration for future developments regarding preconception genetic screening.

Psychosocial Effect and Role of Genetic Counselling in Primary Health Care

“…To understand the psychological effects of providing genetic counseling and genetic screening in preconception primary care, further research is required. The many counseling techniques that can be used when concentrating on non-genetic and genetic risk factors in primary care should be known to primary care professionals (12). http://dx.doi.org/10.52533/JOHS.2022.21216…”

Editorial: genetic aspects of preconception consultation in primary care

“…Lifestyle risk factors, in particular smoking, alcohol and illicit drug use should also be explored and cessation recommended, with referral for treatment as appropriate. However, as Riedijk and colleagues discuss, achieving behaviour change, even in the context of planning a pregnancy, can be challenging (Riedijk et al 2012). Mulvihill discusses the specific issue of past exposure to mutagens; this is increasingly relevant as survival from childhood cancers improves as well as rarer exposures to radiation or other environmental pollutants.…”

“…In this context, it is important therefore to ensure that carrier screening programmes can demonstrate a positive balance of benefits over harms for participants, and seek to support informed choice not simply high test uptake. The potential psychosocial harms, which are critical to consider in the context of this ethical framework, are further discussed in the paper by Riedijk et al (2012).…”

“…This theme issue of the journal is about preconception care in primary care. As several authors discuss, there are inherent difficulties of delivering preconception care, not least that perhaps up to half of pregnancies are unplanned (Riedijk et al 2012). While in some communities with a high prevalence of specific autosomal recessive conditions, there is a culture of school-based or pre-marital testing (Metcalfe 2012); in many countries, preconception counselling is far from a cultural norm.…”

“…As discussed by Ten Kate (2012), a study of preconception counselling in primary care found that 42 % of couples required further action by the GP and 4 % referral to a clinical geneticist based upon identified risks. In the Netherlands, preconception care has become more integrated into primary care partly through the establishment of midwifery-led clinics (Riedijk et al 2012). If the costs of next-generation sequencing fall as predicted (Ropers 2012), offering preconception counselling will only become more complex but there are insufficient specialist genetic services available to provide this counselling.…”