Trial Outcomes & Findings for South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South (NCT NCT03842995)

Last Updated: 2024-12-13

Results Overview

Collected after return of whole genome sequencing results using the GCOS. The GCOS is a 24-item counseling outcome scale to assess parental empowerment through questions addressing five constructs: Decision control, Cognitive control, Behavioral control, Emotional regulation, and Future orientation. Each of the 24-items is answered with a 7-point Likert-type scale: Strongly disagree (1), Disagree (2), Slightly disagree (3), Neither agree nor disagree (4), slightly agree (5), agree (6), and strongly agree (7). Range of possible scores for those completing all items: 24-168. Higher scores are better.

Recruitment status

COMPLETED

Study phase

Target enrollment

477 participants

Primary outcome timeframe

3 months post specimen collection

Results posted on

2024-12-13

Participant Flow

In this clinical trial the participants were parents of neonates that had whole genome sequencing performed. Only the answers from mothers were analyzed, thus in this RCT only the mothers were enrolled/analyzed. Neither the neonates or the health-care providers were enrolled in this RCT. This was not a dyad study.

Participant milestones

Participant milestones
Measure	Genetic Counselor Standard of Care. Parents/caregivers of neonates enrolled in SouthSeq will receive counseling on their child's Whole Genome Sequencing (WGS) results from Genetic Counselors Genetic Counselor: Standard of Care	Trained Healthcare Provider Healthcare providers (e.g., neonatologists and neonatology nurse practitioners) will receive training to competently deliver Whole Genome Sequencing results to parents/caregivers of neonates enrolled in SouthSeq Trained Healthcare Provider: Neonatologists and Neonatology Nurse Practitioners that receive training to deliver whole genome sequencing results
Overall Study STARTED	240	237
Overall Study COMPLETED	98	95
Overall Study NOT COMPLETED	142	142

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

South-seq: Deoxyribonucleic Acid (DNA) Sequencing for Newborn Nurseries in the South

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Genetic Counselor n=240 Participants Standard of Care. Parents/caregivers of neonates enrolled in SouthSeq will receive counseling on their child's Whole Genome Sequencing (WGS) results from Genetic Counselors Genetic Counselor: Standard of Care	Trained Healthcare Provider n=237 Participants Healthcare providers (e.g., neonatologists and neonatology nurse practitioners) will receive training to competently deliver Whole Genome Sequencing results to parents/caregivers of neonates enrolled in SouthSeq Trained Healthcare Provider: Neonatologists and Neonatology Nurse Practitioners that receive training to deliver whole genome sequencing results	Total n=477 Participants Total of all reporting groups
Age, Continuous	27.29 years STANDARD_DEVIATION 5.60 • n=5 Participants	28.37 years STANDARD_DEVIATION 5.84 • n=7 Participants	27.82 years STANDARD_DEVIATION 5.74 • n=5 Participants
Sex: Female, Male Female	240 Participants n=5 Participants	237 Participants n=7 Participants	477 Participants n=5 Participants
Sex: Female, Male Male	0 Participants n=5 Participants	0 Participants n=7 Participants	0 Participants n=5 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=5 Participants	0 Participants n=7 Participants	0 Participants n=5 Participants
Race (NIH/OMB) Asian	1 Participants n=5 Participants	3 Participants n=7 Participants	4 Participants n=5 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=5 Participants	0 Participants n=7 Participants	0 Participants n=5 Participants
Race (NIH/OMB) Black or African American	52 Participants n=5 Participants	49 Participants n=7 Participants	101 Participants n=5 Participants
Race (NIH/OMB) White	91 Participants n=5 Participants	90 Participants n=7 Participants	181 Participants n=5 Participants
Race (NIH/OMB) More than one race	7 Participants n=5 Participants	7 Participants n=7 Participants	14 Participants n=5 Participants
Race (NIH/OMB) Unknown or Not Reported	89 Participants n=5 Participants	88 Participants n=7 Participants	177 Participants n=5 Participants

PRIMARY outcome

Timeframe: 3 months post specimen collection

Outcome measures

Outcome measures
Measure	Genetic Counselor n=98 Participants Standard of Care. Parents/caregivers of neonates enrolled in SouthSeq will receive counseling on their child's Whole Genome Sequencing (WGS) results from Genetic Counselors Genetic Counselor: Standard of Care	Trained Healthcare Provider n=95 Participants Healthcare providers (e.g., neonatologists and neonatology nurse practitioners) will receive training to competently deliver Whole Genome Sequencing results to parents/caregivers of neonates enrolled in SouthSeq Trained Healthcare Provider: Neonatologists and Neonatology Nurse Practitioners that receive training to deliver whole genome sequencing results
Evaluate Parental Empowerment Using the Genetic Counseling Outcome Scale (GCOS)	117.94 score on a scale Standard Deviation 13.85	117.19 score on a scale Standard Deviation 14.86

SECONDARY outcome

Timeframe: 3 months post specimen collection

Collected after return of whole genome sequencing results using the PUGS. PUGS is an 8-item scale to assess uncertainties within three domains: Clinical, Affective, and Evaluative. Each of the questions is answered on a 5-point Likert-type scale: Very uncertain (1) to very certain (5). Range of possible scores for those completing all items: 8-40. Higher scores represent more certainty.

Outcome measures

Outcome measures
Measure	Genetic Counselor n=99 Participants Standard of Care. Parents/caregivers of neonates enrolled in SouthSeq will receive counseling on their child's Whole Genome Sequencing (WGS) results from Genetic Counselors Genetic Counselor: Standard of Care	Trained Healthcare Provider n=100 Participants Healthcare providers (e.g., neonatologists and neonatology nurse practitioners) will receive training to competently deliver Whole Genome Sequencing results to parents/caregivers of neonates enrolled in SouthSeq Trained Healthcare Provider: Neonatologists and Neonatology Nurse Practitioners that receive training to deliver whole genome sequencing results
Evaluate Parental Uncertainties Using the Parental Perceptions of Uncertainties in Genomic Sequencing (PUGS)	29.11 score on a scale Standard Deviation 7.31	29.74 score on a scale Standard Deviation 5.87

SECONDARY outcome

Timeframe: 3 months post specimen collection

Collected after return of whole genome sequencing results using the PrU. This measure consists of 17 items answered with a 7-point Likert-type scale: Not at all useful (1), A little useful (2), Somewhat useful (3), Neutral (4), Useful (5), Very useful (6), and Extremely useful (7). Range of possible scores for those completing all items: 17-119. Higher scores are better.

Outcome measures

Outcome measures
Measure	Genetic Counselor n=98 Participants Standard of Care. Parents/caregivers of neonates enrolled in SouthSeq will receive counseling on their child's Whole Genome Sequencing (WGS) results from Genetic Counselors Genetic Counselor: Standard of Care	Trained Healthcare Provider n=100 Participants Healthcare providers (e.g., neonatologists and neonatology nurse practitioners) will receive training to competently deliver Whole Genome Sequencing results to parents/caregivers of neonates enrolled in SouthSeq Trained Healthcare Provider: Neonatologists and Neonatology Nurse Practitioners that receive training to deliver whole genome sequencing results
Evaluate Personal Utility Using the Parental Personal Utility Scale (PrU)	78.40 score on a scale Standard Deviation 20.51	73.93 score on a scale Standard Deviation 19.86

Adverse Events

Genetic Counselor

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Trained Healthcare Provider

Serious events: 0 serious events

Other events: 0 other events

Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Adverse event data not reported

Additional Information

Greg Cooper, PhD

Hudson Alpha Institute for Biotechnology

Phone: 2563279490

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place