Factors that impact on women's decision‐making around prenatal genomic tests: An international discrete choice survey

Abstract Objective We conducted a survey‐based discrete‐choice experiment (DCE) to understand the test features that drive women's preferences for prenatal genomic testing, and explore variation across countries. Methods Five test attributes were identified as being important for decision‐making through a literature review, qualitative interviews and quantitative scoring exercise. Twelve scenarios were constructed in which respondents choose between two invasive tests or no test. Women from eight countries who delivered a baby in the previous 24 months completed a DCE presenting these scenarios. Choices were modeled using conditional logit regression analysis. Results Surveys from 1239 women (Australia: n = 178; China: n = 179; Denmark: n = 88; Netherlands: n = 177; Singapore: n = 90; Sweden: n = 178; UK: n = 174; USA: n = 175) were analyzed. The key attribute affecting preferences was a test with the highest diagnostic yield (p < 0.01). Women preferred tests with short turnaround times (p < 0.01), and tests reporting variants of uncertain significance (VUS; p < 0.01) and secondary findings (SFs; p < 0.01). Several country‐specific differences were identified, including time to get a result, who explains the result, and the return of VUS and SFs. Conclusion Most women want maximum information from prenatal genomic tests, but our findings highlight country‐based differences. Global consensus on how to return uncertain results is not necessarily realistic or desirable.


WOMEN'S VIEWS OF PRENATAL TESTS FOR GENETIC CONDITIONS DURING PREGNANCY BACKGROUND
Discovering that the baby is not developing as expected can occur in around 2-5% of pregnancies. Sometimes this happens during a routine ultrasound scan. Parents may be offered an invasive test. This might be an amniocentesis or CVS test that checks the baby's DNA. By looking at the baby's DNA, we can look for changes that may cause genetic conditions. Down syndrome is one of the most common genetic conditions that can be diagnosed during pregnancy. But there are many genetic conditions that are much rarer. These could impact the health and/or development of the baby.
Benefits of prenatal testing can include: • Information about the condition and its impact on the health and/or development of the baby.
• Helping parents to plan for the birth.
• Making decisions about whether or not to continue with the pregnancy.
There is still a lot we don't understand about our DNA. It can be difficult to know whether some of the changes that we find in the baby's DNA are part of normal human differences, or whether they will have an impact on the health of the baby.
Some parents want as much information as possible about the health of their baby during pregnancy even if some of that information may be uncertain. Others prefer not to receive uncertain information during their pregnancy. The aim of this study is to understand what you think about uncertain test results during pregnancy.
In this survey you will be presented with a number of imaginary situations in which different tests are described. You will be asked to choose which test you prefer out of a number of different options. There are no right or wrong answers. We are just interested in your views.
Please read the list of factors below. As you read these think about which of these would be most important to you when considering a test in pregnancy.
• Likelihood of getting a result: o Tests can vary in how likely you will get a result that explains the cause of the baby's health issue. o For the tests described here a result will be found in 5 out of every 100 cases (5% of cases), 30 out of every 100 cases (30% of cases) or 60 out of every 100 cases (60% of cases) o If you do not choose a test you will not get a diagnosis. i.e. The likelihood of getting a diagnosis is 0 out of every 100 cases (0% of cases) • o This could be a genetics specialist with specialist knowledge of the test findings but who you have not met before.
o Or it could be your main maternity care provider who you know well but who will not have specialist knowledge.
o If you do not choose a test, you will not get a result. i.e. no-one will explain your results to you.
• Uncertain results: o Sometimes, we find changes in the DNA but don't know if they are causing the health issue in the baby.
o It can be hard to predict what the impact of these changes will be for the baby.
o These uncertain results are either reported back to parents, or are not reported back to parents.
o If you do not choose a test, you will not get any uncertainty result. i.e. no uncertain results are reported back to parents.
• Secondary findings: o We may find changes in the baby's DNA which cause diseases not related to the health issue in the baby. These might have health implications for the baby and possibly for the parents in later life.
o These are known as 'secondary findings'. They may increase the chance of developing cancer or heart disease. These can often be treated or prevented.
o These secondary findings are either reported to parents or are not reported to parents.
o Some people want to receive secondary findings. They can act on the information. For example, they can go for more regular check-ups. Other people would rather not know. It may cause unnecessary worry about the illness which may not occur at all.
o If you do not choose a test, you will not get any secondary findings. i.e. no secondary findings are reported back to parents. • Nearly all babies with Edwards' syndrome or Patau's syndrome will die before or shortly after birth. Some babies may survive to adulthood, but this is rare.
Test 2: This is a broader test. It will provide the same information as Test 1. It will also look for other conditions that are known to affect the baby's health.
• Some changes found increase the baby's chance of having autism, learning disability or epilepsy.
• • This test will also reveal uncertain results. These are changes in the DNA that may or may not affect the health of the baby.