Key Applications of Genetic Testing in Reproductive Health and Oncology

Prenatal testing and hereditary cancer screenings together account for 70% of the genetic testing market and are the fastest areas of growth in genetic testing. Such testing offers better opportunities for detecting disease risk and clinical management, but it also requires employers and health plans to manage the cost and actively ensure the appropriateness of spend.

December 11, 2020

Precision medicine has great potential to improve patient care and outcomes. The speed of clinical progress has been unprecedented, most notably benefiting patients at risk for, or affected by, genetic conditions.

Genetic tests spending analysis of claim databases from 2014 to 2016, the most recent comprehensive study of this size, showed that prenatal tests accounted for the highest percentage of spending, ranging from 33% to 43%.15 This level of spending, coupled with growth in types of prenatal testing relative to other categories, indicates the increasing prevalence of genetic testing within the field of maternity, as well as its importance to payers and patients alike.15 The second largest segment where genetic testing is making a mark is hereditary cancer testing. This document addresses key applications of genetic testing in these clinical areas and the related employer plan design considerations.

Applications of Genetic Testing in Reproductive Care

Genetic testing can be administered at various points of reproductive care, from initial carrier screenings of prospective parents to newborn screenings just after birth. Within the scope of prenatal genetic tests, there are several types of tests that serve unique purposes and are administered based on each patient’s clinical circumstances:

Genetic Testing Market Segments 
Figure 1: Genetic Testing Market Segments

Source: Blue Cross Blue Shield Association (BCBSA). Evidence-based Benefit Design Committee Presentation: Genetic Testing in Precision Medicine Presentation. February 13, 2019.

  • Carrier screenings are most appropriate for prospective parents who have a known family history of genetic disorders or are at a higher risk for a specific disorder based on their race/ethnicity. Carrier screenings indicate whether an individual carries a gene for a specific genetic disorder that can be passed on to the baby. These screenings may be completed before deciding to have children or during pregnancy.21

Carriers may show no signs of the disease but have the ability to pass the gene change on to their children, who, in turn, may develop the disease or become carriers themselves. The most common carrier screenings are performed for a limited array of genetic conditions, including cystic fibrosis, fragile X syndrome, sickle cell disease and Tay–Sachs disease.

  • Preimplantation genetic testing is a procedure in which the genes of embryos created through assisted reproductive techniques (ART) are examined for potential genetic disorders before being transferred into a uterus. Advances in genetic testing as well as ART efficacy, have led to better and earlier detection of chromosomal abnormalities in embryos. As a result, demand for genetic testing in reproductive services has increased dramatically.

Complex ethical considerations surround the specific types of genetic tests used, as well as the process of choosing the embryos. Therefore, it is important that health plan and fertility benefit partners have expertise in genetic testing and counseling so that they can guide members through this complex area.

Genetic screening tests are widely used in during in vitro fertilization (IVF), as euploid embryos (embryos with the correct number of chromosomes) have a better chance of resulting in a successful and healthy pregnancy. The following tests are typically recommended when one or both parents has a known genetic abnormality to determine if an embryo carries a genetic defect:16

  • Prenatal genetic testing is one of the oldest types of genetic tests on the market and has been available for decades. By examining fetal DNA during the first or second trimester of pregnancy, these tests detect abnormalities in the number of chromosomes present in each cell that can cause Down’s, Edwards’ and Patau’s syndromes, among others.35 Traditionally, fetal DNA samples were obtained invasively, through amniocentesis or chorionic villus sampling (CVS), and posed some risk of pregnancy loss. Technological advancements, however, have spurred the development of more efficient methods of DNA sequencing that require only a simple blood draw to administer the test.
  • Noninvasive prenatal testing (NIPT) is now recommended for all pregnant women regardless of age and is used by millions of women annually; however, NIPT currently only comprises about 3.9% of overall genetic testing spending. While NIPT is a low-cost, easily administered blood test.),16,36 providers will likely recommend following up any positive test result with a diagnostic test (amniocentesis or CVS) due to the risk for false positives.37 That said, NIPTs have been one of the fastest growing categories of genetic testing, as they address the clinical need met by other tests by noninvasive means. Private payers have embraced coverage for these tests for pregnancies that warrant additional testing based on their clinical utility and low risk.

The uptake of NIPT around the world has been remarkable, with literally several million pregnant women getting this test each year. However, it is important to know that the American College of Obstetrics and Gynecology strongly urges that that other tests should be used beyond the initial NIPT before any decisions about a pregnancy are made.


NIH, National Human Genome Research Institute

  • Newborn screenings: In the U.S, all states require that newborns be tested for certain genetic and metabolic abnormalities, although the specific conditions tested for may vary. Newborn screenings are administered one or two days after birth to identify genetic mutations known to cause challenges with health and development. Newborn screening test costs vary, from less than $15 to about $150.38 Parents can request supplemental genetic screenings if they live in states that screen for a lower number of disorders; depending on family history and other risk factors, these additional screenings may be covered by the health plan.10,39

Table 1: Genetic Testing in Reproductive Care: Coverage Decisions

Type of Testing

Coverage Considerations

Prenatal genetic testing


Newborn screening

Generally covered based on well-established clinical utility and moderate costs of such tests. However, certain factors such as the mother’s age and hereditary risks may be limiting factors with respect to the scope of coverage.

Noninvasive prenatal testing (NIPT)

Research conducted by the University of Colorado Skaggs School of Pharmacy and Pharmaceutical Sciences, published in 2019, provides evidence to support expansion of insurance plan coverage.40

Carrier Screenings


Preimplantation genetic testing

Usually predicated on personal/family history and/or race/ethnicity (e.g., screening those of Ashkenazi Jewish descent for Tay-Sachs disease).41,42


There are situations where patients may request a screening that is incremental to the evidence-based screening guidelines used by their provider and approved for coverage by the health plan. Conversely, some patients may refuse genetic testing based on religious or ethical beliefs. Shared decision-making between providers and patients is especially important in this area, along with genetic counseling by trained providers, to ensure that patients understand genetic testing’s limitations, benefits, and costs. Ultimately, like all other coverage decisions, coverage for prenatal testing should be determined based on clinical need and individual circumstances.

Genetic Testing Applications in Oncology

Pre-symptomatic testing has important applications within the oncology space, as many genetic mutations and/or indicators relate to predicting the likelihood of developing different types of cancers. As increasing numbers of patients with ovarian, breast, endometrial, and colon cancer, as well as those with other hereditary cancer syndromes have been identified as having certain genetic mutations, the American College of Obstetricians and Gynecologists (ACOG) has recommended that patients with relatives diagnosed with these mutations undergo predictive testing.

There are several genomic conditions that, if identified via genetic test, can alter the frequency of targeted screening and overall course of treatment. One example is those who have the BRCA1 or BRCA2 gene choosing to undergo mammograms earlier in life and more frequently to increase the likelihood of early detection. Patients whose BRCA testing results may indicate a high enough level of risk and where individual circumstances warrant further action may decide to undergo preventive procedures to lessen the probability of developing cancer. Alternatively, these patients can be more closely and/or frequently screened for disease markers.43

Pharmacogenomics has broad applications in oncology as well. Once an individual has been diagnosed with cancer, their physician will test samples of cancerous cells to look for certain gene changes. These tests can give information on a person’s outlook (prognosis) and help tell whether certain types of treatment might be useful. The main priority of pharmacogenomics is to optimize treatment by understanding the underlying biological mechanisms and utilizing genomic contributions to treatment response to predict and individualize therapy and improve treatment outcomes.44

Employers should actively work with their health plans to understand genetic testing coverage policies of the health plan and monitor their data to understand the cost burden of such tests. More is not always better, and any physician who tends to overprescribe genetic tests should be identified by health plans and their activity monitored for potential waste reduction.

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TABLE OF CONTENTS

  1. Applications of Genetic Testing in Reproductive Care
  2. Genetic Testing in Reproductive Care: Coverage Decisions
  3. Genetic Testing Applications in Oncology