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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support.

Rebecca R Moultrie1, Ryan Paquin2, Christine Rini3,4

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Parents value quality of life when deciding on newborn exome sequencing (NGS-NBS). Understanding these perspectives helps create decision aids for this important newborn screening choice.

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Area of Science:

  • Genomics
  • Pediatrics
  • Bioethics

Background:

  • Next-generation sequencing in the newborn period (NGS-NBS) offers potential benefits but raises complex parental decisions.
  • Developing effective decision aids requires understanding parental values and beliefs.

Purpose of the Study:

  • To explore parental perspectives on NGS-NBS to inform the creation of a decision support tool.
  • To understand factors influencing parental decisions regarding NGS-NBS and result disclosure.

Main Methods:

  • Dyadic interviews were conducted with 66 parents (33 couples).
  • Qualitative framework analysis was used to analyze interview transcripts.
  • Focus on decisions about undergoing NGS-NBS and learning results based on onset and actionability.

Main Results:

  • Favorable views included early intervention, preparedness, child autonomy, and altruism.
  • Concerns involved potential negative effects, psychosocial harm, and religious beliefs.
  • Parents consistently prioritized quality of life in their decision-making.

Conclusions:

  • Parental perspectives are crucial for informed decision-making regarding NGS-NBS.
  • A parent-centric decision aid, informed by these values, can support families.
  • Addressing parental values is key in the evolving landscape of newborn screening.