Updates in Genetic Testing

In our last newsletter, we commented at some length on two topics – the introduction of cell-free DNA testing for ‘low risk’ patients and expanded carrier screening. A couple of brief follow-up notes:

Cell free DNA Screening:

Update on reimbursement and insurance coverage -- our business office is working diligently with third-party payers to provide additional documentation and to appeal denials on behalf of your patients. We are making every effort to minimize the out-of-pocket expense for them. All patients are provided a thorough discussion about the financial implications of screening and testing done through our practice prior to undergoing such testing. We are also negotiating for lowered costs to IMG so that we can pass that along as well. As we commented on previously, we are using the cfDNA test that provides the widest scope of validate coverage and we’ll continue to build on that decision. 

Joint Statement from ACOG/SMFM (Committee Opinion) No. 640, September, 2015;

Published Electronically Ahead of Print on June 26, 2015): This Committee Opinion was just released and provides updated recommendations regarding cell-free fetal DNA screening, or non-invasive prenatal testing (NIPT). While a full discussion about its content will be forthcoming in a future newsletter, we wanted to address two key points:

  1. Women or couples seen at IMG receive full counseling about all screening and diagnostic options, including limitations of NIPT.
  2. Sonography still has an important role in the testing process, not only in assessing the nuchal translucency (as used in traditional aneuploidy screening algorithms) but also in detecting structural abnormalities at this early gestational age. Our experience is that as many as 5% of early pregnancies are found to have structural anomalies that change our testing recommendations. 

(We will also be discussing the future and role of early ultrasound anatomy scanning in an upcoming newsletter.)

Expanded Carrier Screening:

Until recently, our approach to expanded carrier screening was to utilize a targeted mutation detection system, in other words: searching for a limited number of known mutations. As sequencing technology has become more rapid and reliable, we have decided to now perform ‘next-gen’ sequencing techniques as the preferred methodology, without any increase in cost to your patients. Sequencing allows for overall superior detection rates for gene mutations and thus provides the ability to reduce a patient’s residual risk for being a carrier of any given particular disorder to negligible levels. In addition, adopting this technology will allow us to expand the number of targeted genes in the future without compromising detection rates or other inclusion criteria.