How should costs and cost-effectiveness be considered in prenatal genetic testing?

Teresa N. Sparks, Aaron Caughey

Research output: Contribution to journalReview article

1 Citation (Scopus)

Abstract

In January 2017, a group of experts in prenatal genetics attended a workshop at the Society of Maternal-Fetal Medicine meeting to review the evidence behind the costs and cost-effectiveness of prenatal genetic testing. Over the past decade, prenatal genetic testing options have dramatically expanded to include additional options with cell-free DNA (cfDNA) screening, as well as increased diagnostic abilities through chromosomal microarray analysis (CMA), gene panels, whole exome sequencing, and other tests. With these expanding technologies, it is important to consider the options available as well as the cost effectiveness of their use. Other important considerations are the effects of movements toward value-based health care; the role of professional societies, commercial laboratories, and insurers; disparities that exist in prenatal genetic testing; and outcomes for both patients and health care systems. Workshop participants identified key areas of research to advance our understanding of the costs and cost-effectiveness of prenatal genetic testing, which include (1) understanding the short- and long-term costs to patients and to health care systems with prenatal genetic tests; (2) elucidating the short- and long-term health outcomes for parents and children that are important to consider when comparing one testing strategy to another; (3) understanding the value underlying prenatal genetic testing to individuals and health care systems; and (4) identifying disparities in prenatal genetic testing, reasons for these disparities, and how to minimize them.

Original languageEnglish (US)
Pages (from-to)275-282
Number of pages8
JournalSeminars in Perinatology
Volume42
Issue number5
DOIs
StatePublished - Aug 1 2018

Fingerprint

Genetic Testing
Cost-Benefit Analysis
Costs and Cost Analysis
Delivery of Health Care
Exome
Education
Professional Role
Insurance Carriers
Aptitude
Microarray Analysis
Patient Care
Parents
Mothers
Medicine
Technology
DNA
Health
Research
Genes

Keywords

  • Cost
  • Cost-effectiveness
  • Disparities
  • Prenatal genetic testing
  • Value-based care

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology

Cite this

How should costs and cost-effectiveness be considered in prenatal genetic testing? / Sparks, Teresa N.; Caughey, Aaron.

In: Seminars in Perinatology, Vol. 42, No. 5, 01.08.2018, p. 275-282.

Research output: Contribution to journalReview article

@article{fe9127d373284754b7d8e706a75cd8e7,
title = "How should costs and cost-effectiveness be considered in prenatal genetic testing?",
abstract = "In January 2017, a group of experts in prenatal genetics attended a workshop at the Society of Maternal-Fetal Medicine meeting to review the evidence behind the costs and cost-effectiveness of prenatal genetic testing. Over the past decade, prenatal genetic testing options have dramatically expanded to include additional options with cell-free DNA (cfDNA) screening, as well as increased diagnostic abilities through chromosomal microarray analysis (CMA), gene panels, whole exome sequencing, and other tests. With these expanding technologies, it is important to consider the options available as well as the cost effectiveness of their use. Other important considerations are the effects of movements toward value-based health care; the role of professional societies, commercial laboratories, and insurers; disparities that exist in prenatal genetic testing; and outcomes for both patients and health care systems. Workshop participants identified key areas of research to advance our understanding of the costs and cost-effectiveness of prenatal genetic testing, which include (1) understanding the short- and long-term costs to patients and to health care systems with prenatal genetic tests; (2) elucidating the short- and long-term health outcomes for parents and children that are important to consider when comparing one testing strategy to another; (3) understanding the value underlying prenatal genetic testing to individuals and health care systems; and (4) identifying disparities in prenatal genetic testing, reasons for these disparities, and how to minimize them.",
keywords = "Cost, Cost-effectiveness, Disparities, Prenatal genetic testing, Value-based care",
author = "Sparks, {Teresa N.} and Aaron Caughey",
year = "2018",
month = "8",
day = "1",
doi = "10.1053/j.semperi.2018.07.003",
language = "English (US)",
volume = "42",
pages = "275--282",
journal = "Seminars in Perinatology",
issn = "0146-0005",
publisher = "W.B. Saunders Ltd",
number = "5",

}

TY - JOUR

T1 - How should costs and cost-effectiveness be considered in prenatal genetic testing?

AU - Sparks, Teresa N.

AU - Caughey, Aaron

PY - 2018/8/1

Y1 - 2018/8/1

N2 - In January 2017, a group of experts in prenatal genetics attended a workshop at the Society of Maternal-Fetal Medicine meeting to review the evidence behind the costs and cost-effectiveness of prenatal genetic testing. Over the past decade, prenatal genetic testing options have dramatically expanded to include additional options with cell-free DNA (cfDNA) screening, as well as increased diagnostic abilities through chromosomal microarray analysis (CMA), gene panels, whole exome sequencing, and other tests. With these expanding technologies, it is important to consider the options available as well as the cost effectiveness of their use. Other important considerations are the effects of movements toward value-based health care; the role of professional societies, commercial laboratories, and insurers; disparities that exist in prenatal genetic testing; and outcomes for both patients and health care systems. Workshop participants identified key areas of research to advance our understanding of the costs and cost-effectiveness of prenatal genetic testing, which include (1) understanding the short- and long-term costs to patients and to health care systems with prenatal genetic tests; (2) elucidating the short- and long-term health outcomes for parents and children that are important to consider when comparing one testing strategy to another; (3) understanding the value underlying prenatal genetic testing to individuals and health care systems; and (4) identifying disparities in prenatal genetic testing, reasons for these disparities, and how to minimize them.

AB - In January 2017, a group of experts in prenatal genetics attended a workshop at the Society of Maternal-Fetal Medicine meeting to review the evidence behind the costs and cost-effectiveness of prenatal genetic testing. Over the past decade, prenatal genetic testing options have dramatically expanded to include additional options with cell-free DNA (cfDNA) screening, as well as increased diagnostic abilities through chromosomal microarray analysis (CMA), gene panels, whole exome sequencing, and other tests. With these expanding technologies, it is important to consider the options available as well as the cost effectiveness of their use. Other important considerations are the effects of movements toward value-based health care; the role of professional societies, commercial laboratories, and insurers; disparities that exist in prenatal genetic testing; and outcomes for both patients and health care systems. Workshop participants identified key areas of research to advance our understanding of the costs and cost-effectiveness of prenatal genetic testing, which include (1) understanding the short- and long-term costs to patients and to health care systems with prenatal genetic tests; (2) elucidating the short- and long-term health outcomes for parents and children that are important to consider when comparing one testing strategy to another; (3) understanding the value underlying prenatal genetic testing to individuals and health care systems; and (4) identifying disparities in prenatal genetic testing, reasons for these disparities, and how to minimize them.

KW - Cost

KW - Cost-effectiveness

KW - Disparities

KW - Prenatal genetic testing

KW - Value-based care

UR - http://www.scopus.com/inward/record.url?scp=85052726801&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85052726801&partnerID=8YFLogxK

U2 - 10.1053/j.semperi.2018.07.003

DO - 10.1053/j.semperi.2018.07.003

M3 - Review article

VL - 42

SP - 275

EP - 282

JO - Seminars in Perinatology

JF - Seminars in Perinatology

SN - 0146-0005

IS - 5

ER -