Clinical Implementation of Carrier Status Using Next Generation Sequencing
| Status: | Completed |
|---|---|
| Conditions: | Women's Studies |
| Therapuetic Areas: | Reproductive |
| Healthy: | No |
| Age Range: | 21 - 50 |
| Updated: | 3/15/2019 |
| Start Date: | January 2014 |
| End Date: | May 2018 |
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.
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.
Project 1-Clinical Intervention and Outcomes Aim 1: To conduct 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).
Aim 2: To develop processes for delivering information from WGS directly into the patient's
electronic medical record, and establish innovative reporting strategies that are informative
for clinicians and couples acting on this information.
Aim 3: To measure for the integration of sequence information in clinical care for both
carrier status and secondary findings including:
1. Patient reported outcomes (PRO) on the impact on quality of life, satisfaction with
care, timeliness of reporting, and use of the genomic information.
2. Process outcomes such as timeliness, number of reportable findings, and time of
interpretation.
Project 2 -WGS technology, informatics, and Return of Results Committee (RORC)
Aim 1: To generate whole genome sequence and interpret variants on samples randomized from
the Kaiser Permanente Northwest (KPNW) preconception carrier screening cohort.
1. To perform whole genome sequencing, assembly, and variant detection for each sample.
2. To provide variant data on each sample with annotation and ranking of clinical
significance.
3. To validate data using an orthogonal platform for findings relevant to carrier status
and actionable secondary findings.
Aim 2: To develop and implement a return of results committee (RORC) that incorporates
evidence to assess criteria for reporting carrier status for reproductive decision making and
secondary findings.
Project 3 - Ethical and Psychosocial Implications
Aim 1: To evaluate, patient and clinical perspectives on informational needs, satisfaction,
knowledge, and decision-making relating to the choice to obtain results of carrier status
from WGS in four categories of genetic conditions.
Aim 2: To evaluate, from patient and clinician perspectives, the immediate and downstream
ethical, psychosocial, and behavioral consequences of expanded carrier screening using WGS.
Aim 3: To evaluate the impact of expanded carrier test using WGS on subsequent health care
utilization, and to compare the cost of delivery WGS to usual care.
(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).
Aim 2: To develop processes for delivering information from WGS directly into the patient's
electronic medical record, and establish innovative reporting strategies that are informative
for clinicians and couples acting on this information.
Aim 3: To measure for the integration of sequence information in clinical care for both
carrier status and secondary findings including:
1. Patient reported outcomes (PRO) on the impact on quality of life, satisfaction with
care, timeliness of reporting, and use of the genomic information.
2. Process outcomes such as timeliness, number of reportable findings, and time of
interpretation.
Project 2 -WGS technology, informatics, and Return of Results Committee (RORC)
Aim 1: To generate whole genome sequence and interpret variants on samples randomized from
the Kaiser Permanente Northwest (KPNW) preconception carrier screening cohort.
1. To perform whole genome sequencing, assembly, and variant detection for each sample.
2. To provide variant data on each sample with annotation and ranking of clinical
significance.
3. To validate data using an orthogonal platform for findings relevant to carrier status
and actionable secondary findings.
Aim 2: To develop and implement a return of results committee (RORC) that incorporates
evidence to assess criteria for reporting carrier status for reproductive decision making and
secondary findings.
Project 3 - Ethical and Psychosocial Implications
Aim 1: To evaluate, patient and clinical perspectives on informational needs, satisfaction,
knowledge, and decision-making relating to the choice to obtain results of carrier status
from WGS in four categories of genetic conditions.
Aim 2: To evaluate, from patient and clinician perspectives, the immediate and downstream
ethical, psychosocial, and behavioral consequences of expanded carrier screening using WGS.
Aim 3: To evaluate the impact of expanded carrier test using WGS on subsequent health care
utilization, and to compare the cost of delivery WGS to usual care.
Inclusion Criteria:
- 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
Exclusion Criteria:
- Currently pregnant
- No known or accessible male partner
- Not an English speaker
- Not a Kaiser Permanente member
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