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Abstract Details

The Return of Answer ALS Results Study (RoAR): Answering the Duty to Disclose
Neuromuscular and Clinical Neurophysiology (EMG)
P9 - Poster Session 9 (12:00 PM-1:00 PM)
1-006
1) To return genetic results to consenting AnswerALS participants 2) To study participant-reported outcomes related to perceived support, autonomy, and understanding and utility of results.
AnswerALS is designed to correlate clinical, genetic, and biochemical assessments to further understanding of ALS and drive therapeutic discovery. All 1042 participants in AnswerALS undergo whole genome sequencing, however return of results was not included in the original study design. The RoAR study was designed for participants to consent to receive select genetic results and to study participant experience with results disclosure.  
RoAR participants consent to receive results of five ALS genes (C9orf72, SOD1, FUS, TARDP, TBK1) and/or 59 medically actionable genes as designated by the American College of Medical Genetics.  Participants with positive results are offered clinical confirmation and receive genetic counseling via phone; those with no positive findings receive a letter. All participants complete pre- and post-disclosure surveys to assess their experience.
Recruitment began February 15, 2019; 141/641 (22%) of eligible participants have enrolled in RoAR as of October 17, 2019. Variant interpretation has been completed for 86/141 participants. Pathogenic variants have been identified in 11/86 (13%) with 5/11 in C9orf72, 1/11 in TARDBP, 2/11 in MUTYH, 1/11 in SDHB, 1/11 in SDHD, and 1/11 in APOB. Results disclosure has been completed for 47 participants.   
This ongoing study is an opportunity for AnswerALS participants to access select genetic results and will provide valuable insight into participant outcomes related to research result disclosure. There is a growing appreciation of the importance of participant autonomy and engagement in genomic research, and disclosure of results is increasingly recognized as an ethical obligation. RoAR provides a model of a ‘disclosure study’ to share results from genomic research with participants who were not initially offered the option to receive results.  
Authors/Disclosures

PRESENTER 		No disclosure on file
No disclosure on file
Sarah Heintzman, NP (The Ohio State University) Ms. Heintzman has nothing to disclose.
No disclosure on file
No disclosure on file
No disclosure on file
Matthew Harms, MD (Columbia) Dr. Harms has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biogen. Dr. Harms has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for Muscular Dystrophy Association. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Invitae. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Variant Bio. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Sarepta. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amylyx. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for uniQure. Dr. Harms has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Littlepage Booth. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for O'Connor First. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Searcy Denney. Dr. Harms has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Ford, Parshall & Baker LLC . The institution of Dr. Harms has received research support from ALS Association. The institution of Dr. Harms has received research support from Ionis. The institution of Dr. Harms has received research support from ALS Finding a Cure. The institution of Dr. Harms has received research support from Target ALS.
Stephen J. Kolb, MD, PhD (The Ohio State University) Dr. Kolb has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for AveXis. Dr. Kolb has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for CureSMA. The institution of Dr. Kolb has received research support from NIH. The institution of Dr. Kolb has received research support from AveXis. The institution of Dr. Kolb has received research support from NIH.
Jennifer A. Roggenbuck, MS, CGC (Ohio State University) The institution of Ms. Roggenbuck has received research support from Packard Foundation.