Reproductive screening – Your questions answered

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The questions answered in this podcast are listed below.
They were compiled by GPs and health professionals around Australia.

1. When is the best time to do the screening before pregnancy?
2. Just how accurate are these tests? Are there any false positive or negative results for these tests?
3. If we have a patient with premature ovarian insufficiency, should we be testing them for fragile-x mutations to help determine the risk of their family members being carriers?
4. The husband of one of my patients has a sister who is a known cystic fibrosis gene carrier. My patient has had 3 gene carrier testing which showed low risk (no mutation). Do I need to motivate the husband to be tested as well?
5. Are there any special issues for genetic testing in a female to male transgender patient?
6. What conditions are included in the expanded carrier screen and what proportion of women will be positive for at least one of the allele variations?
7. Is the expanded reproductive screen only looking for Autosomal recessive and X linked conditions?
8. Is there any difference between saliva and blood testing for carrier screening?
9. Is it possible to access genetic counselling through telehealth?
10. There are now so many providers of preconception genetic screening out there that many GPs now find themselves in a position of looking for the best compromise between the number of genes screened vs the cost to the patient and it can be difficult to get the right answers on this point. Is there any advice you can give to help us decide what is “best” or the “best compromise” as some patients are very short of funds whereas others are happy to spend whatever it takes.
11. There were lots of questions on the implications of testing on future life and health insurance, so it is obviously an area of real concern both to patients and their health providers. I’ve picked just one of these today- I’ve heard some concern around insurance companies refusing to cover persons with abnormal results on carrier screening. Could you speak to this a little in terms of whether this should be included when counselling a patient about screening?
12. Will the upcoming MBS item number for 3-gene RCS be for women only, or both the female and male parents? Do you have any idea if known sperm donors will be eligible if male partners would be eligible?
13. What will be the out-of-pocket expense to the patient once the Medicare rebate becomes available in November for the 3 gene RCS test?
14. Are the e-Learning resources for patients you mentioned in your presentation available in languages other than English and are there any resources you would recommend to patients with low health literacy?
15. Do you have any online resources, courses or websites you would recommend to a clinician who wants to understand the current state of play with regards to genetic screening in order to better explain it to their patients?


Host: Dr Terri Foran, Sexual Health Physician
Guest: Dr Samantha Sundercombe, Genetic Pathologist
Total time: 21 mins

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Last Updated: 23 Feb, 2024

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