Clinical Implementation of Carrier Status Using Next Generation Sequencing

Completed · Not applicable

Conditions studied: Genetic Disorders

In brief

This study is conducting a randomized controlled trial (RCT) with up to 400 subjects (women \& partners) seeking pre-conception carrier testing to assess the impact of the program using Whole Genome Sequencing (WGS). 1. The investigators hypothesize that whole genome sequencing will increase the detection of carrier status for Mendelian recessive and x-linked conditions. 2. The investigators hypothesize that parents will act on the knowledge of their carrier status by making different reproductive choices than parents who do not receive this information. 3. The investigators hypothesize that the psychosocial risks are increased among parents who receive expanded carrier screening using Next Generation Sequencing (NGS) compared with usual care.

Key facts

Study ID

NCT01902901

Run by

Kaiser Permanente

People needed

384

Starts

2014-01-01

Expected to finish

2018-05-01

Last updated by the study team

2019-04-17

Who can join

Age: 21 and older, up to 50. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• Seeking pre-conception carrier status testing or had carrier testing during pregnancy
• Women with a male partner that can be contacted
• Kaiser Permanente Northwest members
• English speaking
• Not currently pregnant

You may not qualify if…

• Currently pregnant
• No known or accessible male partner
• Not an English speaker
• Not a Kaiser Permanente member

Where it is running

• Kaiser Permanente Northwest — Portland, Oregon, United States

Full record on ClinicalTrials.gov

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