Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

Tia L. Kauffman, Michael C. Leo, Frances L. Lynch, Jacob A. Reiss, Carmit McMullen, Katrina A B Goddard, Benjamin S. Wilfond, Gail P. Jarvik, Gail P. Jarvik, Deborah Nickerson, Carolyn (Sue) Richards, Michael O. Dorschner

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Population-based carrier screening is limited to well-studied or high-impact genetic conditions for which the benefits may outweigh the associated harms and costs. As the cost of genome sequencing declines and availability increases, the balance of risks and benefits may change for a much larger number of genetic conditions, including medically actionable additional findings. We designed an RCT to evaluate genomic clinical sequencing for women and partners considering a pregnancy. All results are placed into the medical record for use by healthcare providers. Through quantitative and qualitative measures, including baseline and post result disclosure surveys, post result disclosure interviews, 1–2 year follow-up interviews, and team journaling, we are obtaining data about the clinical and personal utility of genomic carrier screening in this population. Key outcomes include the number of reportable carrier and additional findings, and the comparative cost, utilization, and psychosocial impacts of usual care vs. genomic carrier screening. As the study progresses, we will compare the costs of genome sequencing and usual care as well as the cost of screening, pattern of use of genetic or mental health counseling services, number of outpatient visits, and total healthcare costs. This project includes novel investigation into human reactions and responses from would-be parents who are learning information that could both affect a future pregnancy and their own health.

Original languageEnglish (US)
Pages (from-to)100-105
Number of pages6
JournalContemporary Clinical Trials
Volume53
DOIs
StatePublished - Feb 1 2017

Fingerprint

Genetic Testing
Randomized Controlled Trials
Costs and Cost Analysis
Disclosure
Genome
Interviews
Pregnancy
Mental Health Services
Health Personnel
Health Care Costs
Population
Medical Records
Counseling
Outpatients
Parents
Learning
Health

Keywords

  • Clinical trial
  • Genetic testing
  • Genetics
  • Genome sequencing
  • Preconception

ASJC Scopus subject areas

  • Medicine(all)
  • Pharmacology (medical)

Cite this

Kauffman, T. L., Leo, M. C., Lynch, F. L., Reiss, J. A., McMullen, C., Goddard, K. A. B., ... Dorschner, M. O. (2017). Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing. Contemporary Clinical Trials, 53, 100-105. https://doi.org/10.1016/j.cct.2016.12.007

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing. / Kauffman, Tia L.; Leo, Michael C.; Lynch, Frances L.; Reiss, Jacob A.; McMullen, Carmit; Goddard, Katrina A B; Wilfond, Benjamin S.; Jarvik, Gail P.; Jarvik, Gail P.; Nickerson, Deborah; Richards, Carolyn (Sue); Dorschner, Michael O.

In: Contemporary Clinical Trials, Vol. 53, 01.02.2017, p. 100-105.

Research output: Contribution to journalArticle

Kauffman, TL, Leo, MC, Lynch, FL, Reiss, JA, McMullen, C, Goddard, KAB, Wilfond, BS, Jarvik, GP, Jarvik, GP, Nickerson, D, Richards, CS & Dorschner, MO 2017, 'Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing', Contemporary Clinical Trials, vol. 53, pp. 100-105. https://doi.org/10.1016/j.cct.2016.12.007
Kauffman, Tia L. ; Leo, Michael C. ; Lynch, Frances L. ; Reiss, Jacob A. ; McMullen, Carmit ; Goddard, Katrina A B ; Wilfond, Benjamin S. ; Jarvik, Gail P. ; Jarvik, Gail P. ; Nickerson, Deborah ; Richards, Carolyn (Sue) ; Dorschner, Michael O. / Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing. In: Contemporary Clinical Trials. 2017 ; Vol. 53. pp. 100-105.
@article{10a600a570f6426b96153a80980050fb,
title = "Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing",
abstract = "Population-based carrier screening is limited to well-studied or high-impact genetic conditions for which the benefits may outweigh the associated harms and costs. As the cost of genome sequencing declines and availability increases, the balance of risks and benefits may change for a much larger number of genetic conditions, including medically actionable additional findings. We designed an RCT to evaluate genomic clinical sequencing for women and partners considering a pregnancy. All results are placed into the medical record for use by healthcare providers. Through quantitative and qualitative measures, including baseline and post result disclosure surveys, post result disclosure interviews, 1–2 year follow-up interviews, and team journaling, we are obtaining data about the clinical and personal utility of genomic carrier screening in this population. Key outcomes include the number of reportable carrier and additional findings, and the comparative cost, utilization, and psychosocial impacts of usual care vs. genomic carrier screening. As the study progresses, we will compare the costs of genome sequencing and usual care as well as the cost of screening, pattern of use of genetic or mental health counseling services, number of outpatient visits, and total healthcare costs. This project includes novel investigation into human reactions and responses from would-be parents who are learning information that could both affect a future pregnancy and their own health.",
keywords = "Clinical trial, Genetic testing, Genetics, Genome sequencing, Preconception",
author = "Kauffman, {Tia L.} and Leo, {Michael C.} and Lynch, {Frances L.} and Reiss, {Jacob A.} and Carmit McMullen and Goddard, {Katrina A B} and Wilfond, {Benjamin S.} and Jarvik, {Gail P.} and Jarvik, {Gail P.} and Deborah Nickerson and Richards, {Carolyn (Sue)} and Dorschner, {Michael O.}",
year = "2017",
month = "2",
day = "1",
doi = "10.1016/j.cct.2016.12.007",
language = "English (US)",
volume = "53",
pages = "100--105",
journal = "Contemporary Clinical Trials",
issn = "1551-7144",
publisher = "Elsevier Inc.",

}

TY - JOUR

T1 - Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing

AU - Kauffman, Tia L.

AU - Leo, Michael C.

AU - Lynch, Frances L.

AU - Reiss, Jacob A.

AU - McMullen, Carmit

AU - Goddard, Katrina A B

AU - Wilfond, Benjamin S.

AU - Jarvik, Gail P.

AU - Jarvik, Gail P.

AU - Nickerson, Deborah

AU - Richards, Carolyn (Sue)

AU - Dorschner, Michael O.

PY - 2017/2/1

Y1 - 2017/2/1

N2 - Population-based carrier screening is limited to well-studied or high-impact genetic conditions for which the benefits may outweigh the associated harms and costs. As the cost of genome sequencing declines and availability increases, the balance of risks and benefits may change for a much larger number of genetic conditions, including medically actionable additional findings. We designed an RCT to evaluate genomic clinical sequencing for women and partners considering a pregnancy. All results are placed into the medical record for use by healthcare providers. Through quantitative and qualitative measures, including baseline and post result disclosure surveys, post result disclosure interviews, 1–2 year follow-up interviews, and team journaling, we are obtaining data about the clinical and personal utility of genomic carrier screening in this population. Key outcomes include the number of reportable carrier and additional findings, and the comparative cost, utilization, and psychosocial impacts of usual care vs. genomic carrier screening. As the study progresses, we will compare the costs of genome sequencing and usual care as well as the cost of screening, pattern of use of genetic or mental health counseling services, number of outpatient visits, and total healthcare costs. This project includes novel investigation into human reactions and responses from would-be parents who are learning information that could both affect a future pregnancy and their own health.

AB - Population-based carrier screening is limited to well-studied or high-impact genetic conditions for which the benefits may outweigh the associated harms and costs. As the cost of genome sequencing declines and availability increases, the balance of risks and benefits may change for a much larger number of genetic conditions, including medically actionable additional findings. We designed an RCT to evaluate genomic clinical sequencing for women and partners considering a pregnancy. All results are placed into the medical record for use by healthcare providers. Through quantitative and qualitative measures, including baseline and post result disclosure surveys, post result disclosure interviews, 1–2 year follow-up interviews, and team journaling, we are obtaining data about the clinical and personal utility of genomic carrier screening in this population. Key outcomes include the number of reportable carrier and additional findings, and the comparative cost, utilization, and psychosocial impacts of usual care vs. genomic carrier screening. As the study progresses, we will compare the costs of genome sequencing and usual care as well as the cost of screening, pattern of use of genetic or mental health counseling services, number of outpatient visits, and total healthcare costs. This project includes novel investigation into human reactions and responses from would-be parents who are learning information that could both affect a future pregnancy and their own health.

KW - Clinical trial

KW - Genetic testing

KW - Genetics

KW - Genome sequencing

KW - Preconception

UR - http://www.scopus.com/inward/record.url?scp=85007226795&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85007226795&partnerID=8YFLogxK

U2 - 10.1016/j.cct.2016.12.007

DO - 10.1016/j.cct.2016.12.007

M3 - Article

C2 - 27940182

AN - SCOPUS:85007226795

VL - 53

SP - 100

EP - 105

JO - Contemporary Clinical Trials

JF - Contemporary Clinical Trials

SN - 1551-7144

ER -