Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual …

A Capalbo, M Poli, A Riera-Escamilla… - Human reproduction …, 2021 - academic.oup.com
BACKGROUND Our genetic code is now readable, writable and hackable. The recent
escalation of genome-wide sequencing (GS) applications in population diagnostics will not …

The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review

GA Alarcón Garavito, T Moniz, N Deom… - European Journal of …, 2023 - nature.com
Genomic healthcare programmes, both in a research and clinical context, have
demonstrated a pivotal opportunity to prevent, diagnose, and treat rare diseases. However …

Is it just for a screening program to give people all the information they want?

L Dive, I Holmes, AJ Newson - The American Journal of Bioethics, 2023 - Taylor & Francis
Genomic screening at population scale generates many ethical considerations. One is the
normative role that people's preferences should play in determining access to genomic …

Ethics of reproductive genetic carrier screening: from the clinic to the population

L Dive, AJ Newson - Public Health Ethics, 2021 - academic.oup.com
Reproductive genetic carrier screening (RCS) is increasingly being offered more widely,
including to people with no family history or otherwise elevated chance of having a baby …

The use of expanded carrier screening of gamete donors

MR Payne, AB Skytte, JC Harper - Human Reproduction, 2021 - academic.oup.com
STUDY QUESTION What are the sperm and egg donor rejection rates after expanded
carrier screening (ECS)? SUMMARY ANSWER Using an ECS panel looking at 46/47 genes …

[HTML][HTML] Economic evaluation of population-based, expanded reproductive carrier screening for genetic diseases in Australia

D Schofield, E Lee, J Parmar, S Kelly, M Hobbs… - Genetics in …, 2023 - Elsevier
Purpose This study aimed to evaluate the cost effectiveness of population-based, expanded
reproductive carrier screening (RCS) for a 300 recessive gene panel from health service …

Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer

I van Dijke, P Lakeman, N Sabiri, H Rusticus… - European Journal of …, 2021 - nature.com
Preconception carrier screening offers couples the possibility to receive information about
the risk of having a child with a recessive disorder. Since 2016, an expanded carrier …

Ethical considerations in gene selection for reproductive carrier screening

L Dive, AD Archibald, AJ Newson - Human genetics, 2022 - Springer
Genetic carrier screening for reproductive purposes has existed for half a century. It was
originally offered to particular ethnic groups with a higher prevalence of certain severe …

Antenatal Reproductive Screening for Pregnant People including Preconception: Provides the Best Reproductive Opportunity for Informed Consent, Quality, and …

RD Wilson - Best Practice & Research Clinical Obstetrics & …, 2024 - Elsevier
Introduction This antenatal screening review will include reproductive screening evidence
and approaches for pre-conception and post-conception, using first to third trimester …

Development and use of the Australian reproductive genetic carrier screening decision aid

E King, J Halliday, AD Archibald, M Delatycki… - European Journal of …, 2022 - nature.com
Reproductive genetic carrier screening (RGCS) may be offered to all individuals and
couples, regardless of family history or ethnicity.“Mackenzie's Mission”(MM) is an Australian …