Summer in Europe – the time for tourists to flock to the sites and beauty, but also time for the annual European Society of Human Reproduction and Embryology meeting. Every year experts in reproductive medicine from across the world gather to present and discuss some of the latest advancements in the field. This year, Recombine was thrilled to have a scientific presence with a presentation highlighting the science related to CarrierMap!
The goal of carrier screening is to identify parents who may be at risk to pass a genetic condition to their offspring, and provide them with guidance throughout the reproductive process. Traditionally, carrier screening for genetic disease included a few particular conditions, offered to patients based upon factors such as: the severity of the condition, the patient’s ethnicity, and how frequently we see carriers of said disease among certain ethnic groups. This frequency is referred to as the carrier rate. However, recent advances in technology and increasing cultural admixture have changed the approach to carrier screening. Today, patients are frequently offered screening for over 100 diseases at a time through expanded panels. The use of expanded carrier screening panels such as CarrierMap has provided the opportunity to constantly observe and analyze carrier rates for a broader range of diseases.
When we look at data from patients screened with an expanded panel like CarrierMap, two key findings present themselves. First, we find that the carrier rates observed in our population for well studied and long tested diseases such as Cystic Fibrosis match carrier rates reported in the scientific literature. Secondly, our data also shows that carrier rates may be higher than previously reported for other impactful conditions, such as Nonsyndromic Hearing Loss and developmental disorders such as Smith-Lemli-Opitz syndrome. Traditional screening – by not including these impactful conditions – may not identify all carriers and thus not provide parents with all available information. Recombine’s presentation – Carrier Screening: An Analysis of Observed Carrier Rates Among a European Population from an Expanded Panel – explains why screening beyond traditionally recommended diseases can be very important, particularly among patients who report having a European ancestry.
As we strive to provide our patients and families with meaningful information relating to their reproductive health, studies on carrier rates and the frequency of rare conditions will play an important role!