Screening vs. Diagnostic Testing

The Screening vs. Diagnostic Testing course is designed to help healthcare providers, genetic counselors, nurses, and clinical staff clearly understand the differences between screening tests and diagnostic tests, why both play important roles in patient care, and how to communicate these distinctions to patients. The course begins by defining screening as a way to estimate risk — not provide a definitive answer — and explains that screening tests are offered broadly to identify individuals who may be at increased risk for a condition. We explore examples like Natera’s Panorama noninvasive prenatal test (NIPT), which screens for common aneuploidies (trisomy 21, 18, 13), sex chromosome abnormalities, and select microdeletions using cell-free DNA from maternal blood. Learners will understand that a “high-risk” screening result means there is an increased probability but not a guarantee that the fetus has the condition.

The course then defines diagnostic testing as the process of confirming or ruling out a condition with high accuracy, often using invasive procedures such as chorionic villus sampling (CVS) or amniocentesis to directly analyze fetal cells. Learners will compare sensitivity, specificity, and positive predictive value of screening versus diagnostic tests and will be introduced to the concept of false positives and false negatives to understand why follow-up diagnostic confirmation is critical before making irreversible clinical decisions.

You will also explore real-world clinical pathways: for example, a patient who receives a high-risk Panorama result for trisomy 21, followed by genetic counseling and diagnostic testing to confirm the finding. The course highlights professional guidelines (ACOG, SMFM) that recommend offering diagnostic testing after a high-risk screening result and that allow patients to choose screening or diagnostic testing based on their personal preferences and clinical context.

Modules will also cover practical considerations like test timing (screening tests are available earlier and carry no risk to the fetus; diagnostic tests are typically performed later and carry a small risk of miscarriage), patient education strategies (explaining risk percentages in plain language), and shared decision-making techniques (helping patients decide whether to pursue further testing).

This course integrates Natera’s product ecosystem to show where each offering fits: Horizon (carrier screening) as a risk assessment before or early in pregnancy, Panorama as a screening tool during pregnancy, and diagnostic options when results warrant confirmation. Interactive elements include case studies, decision-tree exercises where learners choose appropriate next steps based on results, and microlearning videos explaining risk interpretation.

By the end of the course, learners will be able to clearly differentiate between screening and diagnostic testing, articulate the benefits and limitations of each, interpret risk scores, and provide informed guidance to patients about next steps. They will also know how to document counseling conversations, order follow-up tests when indicated, and coordinate with genetic counselors to support patient decision-making.