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Cost of seqeuncing is going down. How do you expect it to affect newborn screening?

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Cost of seqeuncing is going down. How do you expect it to affect newborn screening?

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National Human Genome Research Institute (NHGRI)

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These data, however, do not capture all of the costs associated with the NHGRI Large-Scale Genome Sequencing Program. The sequencing centers perform a number of additional activities whose costs are not appropriate to include when calculating costs for production-oriented DNA sequencing. In other words, NHGRI makes a distinction between 'production' activities and 'non-production' activities.

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Newborn Screening - PerkinElmer Genomics

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With over seven million babies screened globally since 1994, PerkinElmer Genomics is one of the world's largest providers of newborn screening services. With a menu ranging from single biochemical screening tests to large newborn screening genetic testing panels, we strive to be a one-stop-solution for all of your newborn screening needs.

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Find out which screening tests your newborn will be offered, including the blood spot (heel prick) test and hearing test.

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PerkinElmer is the global market leader in neonatal screening, currently serving customers in more than 100 countries. We are a total solution provider offering complete systems based on a broad range of high quality, validated products, including newborn screening kits, consumables, instruments and software.

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Should 2nd tier NGS be included in the price for screening

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Time from the samples to the secondary screened result? per analyte?

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Time from the samples to the secondary screened result? per analyte?

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Space for the new instruments in your lab?

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Space for the new instruments in your lab?

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If available would you use the sequncing to secondary screen hemoglobinopathies, cystic fibrosis, duchenne muscular dystrophy?  Why?

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If available would you use the sequncing to secondary screen hemoglobinopathies, cystic fibrosis, duchenne muscular dystrophy?  Why?

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Do you already use the sequencing for secondary screening? 

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Do you already use the sequencing for secondary screening? 

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Which analytes?

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Which secondary analytes you would like to screen with new kind of technologies and why?

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Which secondary analytes you would like to screen with new kind of technologies and why?

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Whole exome; whole genome; targeted amplicon panel  sequencing in newborn screening?

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Whole exome; whole genome; targeted amplicon panel  sequencing in newborn screening?

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Technologies (whole genome, whole exome, targeted amplicon panel , digital droplet) 1-4 most preferable?

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Technologies (whole genome, whole exome, targeted amplicon panel , digital droplet) 1-4 most preferable?