Reproductive genetic carrier screening is a genetic test offered to women and couples who want to understand their chance of having a child with an inherited genetic condition. This test is being increasingly offered to individuals and couples who may be thinking about starting a family, or are in early pregnancy.

Genetic counsellors work alongside individuals, couples, families and their doctors to help choose the right genetic test, make sense of complex genetic information and provide support to help people understand and adapt to genetic health information.

Lauren Thomas recently completed her Masters of Genetic Counselling, a professionally accredited program required for entry into the field of genetic counselling. Lauren now works at Victorian Clinical Genetics Services, in the Reproductive Genetic Counselling team.

As part of her Masters course, Lauren investigated the views of parents of children with genetic conditions about which types of conditions they thought should be screened through reproductive genetic carrier screening.

The paper, “Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition” in European Journal of Medical Genetics, presents the views of 150 parents, highlighting the considerations and complexities associated with deciding which conditions to include in carrier screening panels.

What is reproductive genetic carrier screening?

Reproductive genetic carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Conditions vary in severity and have different effects on health, development and quality of life.

Initially only offered to those with a family history, or a known risk of passing on a serious genetic condition, carrier screening is being increasingly offered to people planning or preparing for a family. Despite advances in genetic testing technology and greater availability of carrier screening, there is no consensus on which conditions should be included in carrier screening.

Understanding which conditions to look for

In this questionnaire-based study, Lauren and her colleagues sought the views of parents of children with a genetic condition, to understand which types of conditions they believe should be included in carrier screening.

The findings of the study suggested that the severity of the condition under consideration is a key factor in determining whether or not it should be included in carrier screening.

90% of participants supported offering carrier screening for childhood onset conditions which had a severe effect on the child’s health, including neuromuscular conditions, early fatal neurodegenerative conditions, chronic multi-system disorders and conditions which cause intellectual disability.

Views towards the inclusion of non-syndromic hearing loss and preventable adult-onset conditions were much more mixed, with just over half of participants supporting their inclusion.

There was a recurring association between participants’ views towards carrier screening and their lived experience of having a child with a genetic condition. This finding demonstrates the importance and value of including the views of those impacted by genetic conditions in discussions about carrier screening.

Genetic counselling and reproductive genetic carrier screening

Access to accurate information and support are important for any type of genetic screening. Individuals and couples who are interested in having reproductive genetic carrier screening often find it useful to speak with a genetic counsellor as part of the carrier screening process.

Genetic counsellors can demystify carrier screening, including the conditions the test looks at, the limitations of the test, and what type of results can be expected and what they mean. A genetic counsellor can also assist individuals and their families to manage their genetic health information, including exploring reproductive options available to them.

VCGS offers a pre and early-pregnancy screening clinic for anyone considering, or who has had a reproductive screening test through VCGS. Our reproductive genetic counselling team are available to discuss tests and results by telehealth, in person or by phone. This enables easy access to expert knowledge and support, to help people make informed decisions.

Interested in learning more?

Lauren Thomas was recently invited to speak on RRR Radiotherapy program, to discuss this study, and other aspects of genetic testing in Australia. Listen to the full interview online.

You can also read more on the role of genetic counsellors, or listen to Dr Ali Archibald and Natasha explain the impact of Genetic Counsellors, in recent videos created for Genetic Counsellor Awareness Day.

Paper citation: Thomas, L. A., et al. Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition. European Journal of Medical Genetics, 2020