Thread by @ksamocha

Lidewij Henneman #GRD23: Aim of carrier screening is to find carrier couples of recessive disorders with the goal of increasing reproductive autonomy.

A big challenge of screening preconception is that it is difficult to identify and reach the target population.

Lidewij Henneman #GRD23 also notes that screening is not the same as diagnostics. Frequently couples are low-risk, and this is for reassurance. Need to ensure equal access -- should be inexpensive, simple, and socially accepted.

Lidewij Henneman #GRD23 shows some examples of ancestry-based screening and notes high community support for many of these.

In 2020, released guidelines about preconception carrier testing for high-risk populations (e.g., founder populations).

Lidewij Henneman #GRD23: New technologies allow a 2-fold expansion in what is being screened. Most private carrier screening panels now have dozens to a few hundred genes screened. Also increasingly offered in fertility clinics.

Lidewij Henneman #GRD23: Are people interested in expanded carrier screening? In the Dutch population, 1/3 willing to take the test but only half of those were willing to pay (but ~75euros).

Two expanded carrier initiatives ongoing in NL now.

Lidewij Henneman #GRD23: Out of pocket costs are too high (650-950euros), so uptake is low for these expanded carrier screening tests. At least psychological impact seems to be low.

Lidewij Henneman #GRD23: Potential societal implications of carrier screening
- might increasing medicalization
- stigmatization of carriers
- societal pressures

From a literature review; currently very little empirical evidence for these.