Testing Guidelines at a Glance

Two recent testing guidelines were released that address carrier screenings for pregnant women and a rare disease lacking a biomarker to aid in diagnosis.

Expanded Carrier Screening for All Women

All women, regardless of ethnic background, should be offered expanded carrier screening prior to pregnancy, according to new recommendations published by the American College of Obstetricians and Gynecologists’ Committee on Genetics. Ethnic-specific screening, pan-ethnic screening, and expanded carrier screening are all “acceptable” strategies that can be used to identify the risk of genetic disorders in potential offspring.  Additionally, the committee’s recommendations say

• Providers should establish “a standard approach that is consistently offered,” although the ultimate screening approach for an individual should also be guided by the patient’s family history and personal values.
• Expanded carrier screening panels should include conditions that have a carrier frequency of 1 in 100 or greater, a well-defined phenotype, a detrimental effect on quality of life, cause cognitive or physical impairment, require surgical or medical intervention, or have an onset early in life.
• Regardless of ethnicity, screening strategy, or history, all patients should receive carrier screening for the following conditions: cystic fibrosis, spinal muscular atrophy, and thalassemias and hemoglobinpathies (plus a complete blood count).

First Diagnostic Criteria Established for Castleman Disease

Castleman Disease is a rare, complex disease that often looks similar to a lymphoma, but can present like an autoimmune or infectious disorder. Diagnosis is complicated by a lack of a biomarker, leading to a recent push to establish diagnostic criteria (evidence-based consensus), which were recently published in Blood. The criteria require multicentric lymphadenopathy with defined histopathology, two or more clinical/laboratory changes (elevated CRP or ESR, anemia, thrombocytopenia, hypoalbuminemia, renal dysfunction, and/or polyclonal hypergammaglobulinemia), and exclusion of mimic conditions (infectious, autoimmune, or malignant).

For more testing guidelines, see the Guidelines at a Glance feature on our website.