© 2017, GENASSIST, Inc.

By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.

Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.

Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center

Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital

On February 23, 2017 we received a “Medpage Today” release from ACOG: Offer All Women Pre Pregnancy Genetic Screening – Testing Partners May Be Considered As Well by staff writer, Molly Walker.

This is a follow-up to September 25, 2015 release: ACOG Release First Ever Guidance on Pregnancy in Women With Genetic Conditions.

March 2017 is the date of release of a Committee Opinion from the Committee on Genetics on “Carrier Screening in the Age of Genomic Medicine”.

These opinions by the American College of OB/GYN are in close agreement with many of the points made in our blogs on LinkedIn on the September 22, 2014: “Is Screening By Ethnicity Outdated”: https://www.linkedin.com/pulse/20140922144312-218661923-is-screening-by-ethnicity-outdated

and our September 15, 2016 blog from our website http://genassistabcs.com/ethnicity-screening-vs-expanded-carrier-screening-landmark-study-of-346790-patients/ Ethnicity Screening vs Expanded Carrier Screening”.

We recently have had 6 patients referred to our program for amniocentesis; 4 amniocentesis for detection of a risk for autosomal recessive conditions; 2 for carrier parents of Cystic Fibrosis, 2 for carriers parents of Joubert Syndrome, (all detected by carrier testing during pregnancy rather than prior to pregnancy) and 2 amniocentesis for an increased risk for 45, X (Turner Syndrome) and Trisomy 21 (Down Syndrome) detected on Circulating Cell Free DNA (cf-DNA) done at approximately 12 weeks gestation.

The patient who was told that she had an increased risk (PPV 14%) for a child with 45.,X (Turner Syndrome) had limited information about the Maternal Fetal DNA testing and needed additional information about:

  • Turner Syndrome
  • Options for more definitive diagnosis
  • The risks and benefits was well as the reliability of the Cell free DNA (cf-DNA), i.e. false positive, false negative and positive predictive values
  • Needing to decide if “her need to know” justified any risks from the procedures recommended

“Genomic Testing” will continue to evolve and will generate both excitement and trepidation particularly if the results of the “screening test(s)” show results indicative of an increased risk for a particular disorder without definitive evidence that a disorder will occur or that a disorder may not appear until later in childhood or as an adult.

We advanced a possible list of criteria for choosing disorders for screening as the MedPage for ACOG did in the release quoted above.

Our “possible” criteria included

  • Frequency of carrier state
  • Severity of condition
  • Benefit of early recognition
  • Intervention which is available and might benefit the individual
  • Impact on other family members and more remote relatives
  • Whether the result will affect the decision to have additional children
  • Potential for Preimplantation genetic Diagnosis (PGD)

The expansion in both the number of conditions offered for screening and the number of laboratories offering screening has reduced the cost of such screening. Because of the impact of so many of these diseases, it may be appropriate to think of an expanded use of this testing not only for pregnant patients or patients planning a family but for all patients particularly those with a history in themselves or a family member of an undiagnosed condition.

The issue of cost of testing, while extremely important, should Not prevent the healthcare provider from opening the discussion so the family and their insurance company can make a decision about testing.