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Related Concept Videos

Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

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FISH for Pre-implantation Genetic Diagnosis
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The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.

Alison D Archibald1,2,3, Belinda J McClaren2,3, Jade Caruana2,4

  • 1Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia.

Journal of Personalized Medicine
|December 29, 2022
PubMed
Summary

Mackenzie’s Mission offers free reproductive genetic carrier screening (RGCS) to Australian couples, aiming to improve access and informed reproductive choices for serious childhood genetic conditions.

Keywords:
bioethicshealth economicsimplementation sciencepsychosocial outcomesreproductive genetic carrier screening

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Area of Science:

  • Genetics
  • Reproductive Health
  • Public Health

Background:

  • Reproductive genetic carrier screening (RGCS) informs couples about risks for genetic conditions.
  • Current access is limited by cost and awareness.
  • Mackenzie’s Mission addresses these barriers through a government-funded program.

Purpose of the Study:

  • To assess the feasibility and acceptability of an accessible, free RGCS program in Australia.
  • To inform the implementation of an ethically robust national RGCS program.

Main Methods:

  • Phase 1: Mapped implementation needs and developed study elements.
  • Phase 2: Offered RGCS by trained healthcare providers to consenting couples, screening >1200 genes.
  • Phase 3: Mixed-methods analysis including psychosocial, bioethical, and health economic evaluations.

Main Results:

  • The study is currently in Phase 2, offering RGCS and genetic counseling.
  • Data collection via surveys and interviews with participants and providers is ongoing.
  • Phase 3 analysis will evaluate program outcomes and implementation.

Conclusions:

  • Findings will guide the establishment of a sustainable and ethical national RGCS program.
  • Improved access to RGCS can enhance reproductive decision-making for Australian couples.
  • The project aims to reduce the incidence of serious childhood genetic conditions.