Panel discussion principles of dissemination

1. Principles for Dissemination
of GIAB Samples
Discussion Panel
Friday 26 Jan 2018

2. Panel
• Kara Norman, Acrometrix
• Russell Garlick, SeraCare
• Linda Kahl, BioBricks
• Brittany Wright Schuck, FDA
• Sasha Zaranek, Curoverse (co-founder, PGP)

3. Disseminating human genome reference
samples is nuanced
• Much value in control samples derived from GIAB reference samples
• open dissemination
• unrestricted sharing
• Principles of Consent: open and unrestricted
• Technology is advancing, requires cell lines as reference samples
• to act as “packages” to carry chromosome-sized chunks of DNA
• Reliability/Trustworthiness/Stability of the sample
• especially when disseminated as viable cell lines
• do we need NIST products to establish reliability?

4. There’s great value in control samples derived
from GIAB reference samples…
• Does every GIAB sample need to be open for unrestricted distribution
and use?
• How essential is enduring, open, unrestricted availability?
• does NIST need to establish an independent repository with terms supporting
this?
• are we at risk depending on the NIGMS repository at Coriell?

5. Principles of Consent: Is the PGP best?
• Is the PGP project too restrictive in available samples?
• currently dominated by European ancestry genomes
• only 1 non-Caucasian trio
• No cancer samples/cell lines presently in PGP collection
• No BAC or fosmid library resources
• Should GIAB limit ourselves?

6. Technology is advancing.
• Isolated DNA from cell lines is too short to take advantage of
emerging technologies
• Cell lines come with other complications
• is the genome stable?
• how do I prove that I propagated the right cell line?
• does the GIAB characterization apply to THIS particular reference sample?

7. Reliability/Trustworthiness/Stability of the
sample
• What measures should GIAB establish to assure quality?
• of genomes?
• of cells?
• of propagated cells?
• of derived products?
• edited cells?
• …?
• Who’s responsible?