Skip to main navigationSkip to main content
The University of Southampton
Clinical Ethics and Law at Southampton

Dr Juliette Schuurmans

Juliette Shuurmans

Dr Juliette Schuurmans is a medical graduate and clinical researcher who defended her PhD thesis in the Netherlands on 28th June 2021. This marked the completion of the first joint PhD from a University of Southampton and Academic Medical Centre Groningen PhD programme. Juliette was the first joint PhD student with CELS in Southampton and the ELSI research group (ethical, legal, and social issues of clinical genetics) at the University Medical Center, Groningen (UMCG).

The joint PhD examined the offer of extensive genetic carrier testing to prospective parents in 2 different settings: (a) a GP offer to the general population and (b) a fertility setting where assisted reproductive techniques might include the use of donor gametes.

The PhD was supervised by a team from the Netherlands and the UK: Prof Anneke Lucassen and A/Prof Angela Fenwick in Southampton, and Profs van Langen and Ranchor in NL.

Background:

New technologies allow the simultaneous screening for many different genetic carrier states (where in the past single tests might have been done based on a family history, or ethnicity). The offer of this test was piloted in the Netherlands and GPs were willing and able to offer this to their patients of childbearing age. The offer was also considered acceptable in a fertility clinic setting where testing might need to include donors.

In every pregnancy there is a chance that a child may be born with a genetic condition, even where both parents are perfectly healthy. Often without knowing it, most people are carriers of one or more so-called recessive conditions, and this does not affect their health.  Each one of these conditions is rare, but if both members of a couple happen to be carriers for the same condition, then any child born to them has a 1 in 4 chance of having the condition. If we group hundreds of rare conditions together then about 1 in 150 couples will both be a carrier for the same rare condition.

This research looked at a simultaneous screen of carrier status for (initially 50, now 70) serious genetic conditions which cannot be treated (i.e. before a pregnancy) Only couples who were both carriers of the same condition were told about their carrier status, so that they could then make informed decisions about what to do about the increased risk their prospective children would be at. 

Juliette’s study found that GPs, who received targeted training to deliver this test, were well motivated and able to provide the relevant information about the test and guide their patients through the process. Most participants made well-informed decision about taking part and negative psychological outcomes were absent regardless of whether they opted for the screening or not. They were also happy to receive the results as a couple.

Juliette said: “The next step will be to set up a large-scale, nationwide study of the introduction of this screening. All couples hoping to conceive could be offered this screening, with longer term follow-up, to monitor effects on couples and the decisions they make after finding they are a carrier couple. It is important to study the long-term societal implications at the same time.”

In the UK, Juliette studied the offer of carrier screening at two fertility clinics. In this setting, she noted the difference in what it is to be a ‘couple’, especially when donor eggs or sperm are used. The study explored health professional views about the offer, and the ethical aspects involved. Health professionals wondered whether the donors should be informed about their individual results since the nature of the couple here was so different. They considered this information to be relevant for potential future pregnancies with other partners or donors. However, the expanded screening test can easily be repeated when a new couple is formed, and so individual carrier states becomes less important.

Juliette has published the following papers from this research, and more manuscripts are currently in preparation:

Schuurmans J, Birnie E, van den Heuvel LM, Plantinga M, Lucassen A, van der Kolk DM, Abbott KM, Ranchor AV, Diemers AD, van Langen IM.Eur J Hum Genet. 2019 May;27(5):691-700. doi: 10.1038/s41431-019-0351-3. Epub 2019 Feb 11. PMID: 30742054 Free PMC article. Feasibility of couple-based expanded carrier screening offered by general practitioners. 

Schuurmans J, Birnie E, Ranchor AV, Abbott KM, Fenwick A, Lucassen A, Berger MY, Verkerk M, van Langen IM, Plantinga M. Eur J Hum Genet. 2020 Feb;28(2):182-192. doi: 10.1038/s41431-019-0516-0. Epub 2019 Sep 30. PMID: 31570785 Free PMC article. GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?

Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW, Henneman L, Ioannides AS, Kirk E, Laing N, Lucassen A, Massie J, Schuurmans J, Thong MK, van Langen I, Zlotogora J.Prenat Diagn. 2020 Feb;40(3):301-310. doi: 10.1002/pd.5611. Epub 2019 Nov 29. PMID: 31774570 Review. International perspectives on the implementation of reproductive carrier screening.

Plantinga M, Birnie E, Schuurmans J, Buitenhuis AH, Boersma E, Lucassen AM, Verkerk MA, van Langen IM, Ranchor AV.Prenat Diagn. 2019 Apr;39(5):369-378. doi: 10.1002/pd.5437. Epub 2019 Feb 28. PMID: 30756401 Free PMC article. Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views.

Plantinga M, Birnie E, Abbott KM, Sinke RJ, Lucassen AM, Schuurmans J, Kaplan S, Verkerk MA, Ranchor AV, van Langen IM.Eur J Hum Genet. 2016 Oct;24(10):1417-23. doi: 10.1038/ejhg.2016.43. Epub 2016 May 11. PMID: 27165008 Free PMC article. Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.

Birnie E, Schuurmans J, Plantinga M, Abbott KM, Fenwick A, Lucassen A, Berger MY, van Langen IM, Ranchor AV. Genet Med. 2021 Jun 10. doi: 10.1038/s41436-021-01199-6. Online ahead of print.PMID: 34112999: Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions.

My first experiences as a joint PhD student in the UK - Column by Juliette Schuurmans

Privacy Settings