Without Consent

Indiana has stored millions of newborn samples for possible research use without permission.

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Although, clearly, ethical

Although, clearly, ethical norm of obtaining informed consent was violated, yet these samples have not been used for research purposes.As one who has used dry blood spot cards for molecular diagnostics and genetic variation studies, I believe it is a very valuable set of samples, a gold mine for research resource (hope they can still be used). It will be a shame to destroy them. A would like to suggest a few options:
1. Obtain informed consent retrospectively from as many subjects as possible...many of them are adults by now.Let them know that, if they prefer, only medically actionable results will be shared with them so that they have no anxiety about diseases or conditions for which there is no recourse or treatment.
2. Obtain limited consent whereby medical records (EMR) or normal/disease phenotype data will be collected from subjects and linked to the sample...but then the samples will be anonymized.
3. Obtain informed consent to completely anonymize the sample and then use for research purposes.No medical records will be checked but the samples will still provide valuable epidemiological data, specifically for genetic variations.

Vishnu Mishra, PhD

Comments on the above: 1> The

Comments on the above:
1> The samples are only as valuable as the annotation, i.e. the linked clinical information, aside of some very generic DNA variation prevalence questions that could be addressed (as they could be with any other large collection - nothing special there)
2> If you have to go back to obtain consent you will need a significant set of resources, and if you have that you might as well obtain a new blood (and serum/plasma sample), along with clinical annotation; so the value of the Guthrie card becomes the least important part of it (no longitudinal value there either, as the germ-line sequence will not change)
3> Given that all subjects are still very young, the current information content with regard to medical phenotype-genotype correlations is likely very modest.

Thus, given the potential ELSI issues around this, it's probably not worth pursuing this; in a s much as some may argue that destroying the cards is unethical form a different perspective.

Klaus Lindpaintner, MD. MPH

I don't think collecting

I don't think collecting blood form 2.3 million people is something that can be done easily...will take decades!

Vishnu Mishra, PhD

If you review the literature

If you review the literature youll find how rarely these blood spots are used beyond their initial purpose for anything but quality assurance improvements-yet many state public health departments keep them in poorly secured facilities for decades and sometimes indefinitely. Lawmakers enable this because theyre overwhelmed with false claims as to the actual public benefit. Meanwhile parents have absolutely no idea this is happening in the vast majority of instances.

It is important to remember

It is important to remember collection sequencing devices were unavailable when these samples were drawn, and they were in prolonged storage because no one cleared out old files on a regular basis. Not protected from deterioration suggests that they may no longer be viable for research (I am not a scientist).

They might hold valuable information. They could be handled as anonymized research material. Both of these depend on the blots first being examined. Before a hasty decision is made about whether to destroy them, there are alternatives bioethicists might consider like anonymizing the data or seeking permission from families. If the samples are confirmed to be of value, bioethicists would be helpful in suggesting the ethical approach forward. Dealing with the lack of consent within the context of the collection time frame puts the ethical question in perspective.