CF Provider Flipbook 2016

Predictive Medical Solutions™ A clinical guide for Cystic Fibrosis Carrier Screening

What is cystic fibrosis (CF) carrier screening?  Genetic diseases like cystic fibrosis (CF) are inherited from parents to their children  This often occurs even when neither parent has the disease  For a child to inherit CF both parents must have an altered gene that causes CF, thus both parents must be carriers  CF carrier screening tells you if you are a carrier for an altered CF gene  Carrier screening can also tell you what your chance is of having a child with CF  Carrier screening cannot tell you if your child will have CF

Key Points  CF incidence occurs 1 in 2,500 live births  Autosomal recessive pattern  10 million carriers at risk  2,500 new cases per year  30,000 patients living with CF in US

Key Points (Continued)  Average lifespan for severe cases of CF has increased from 18 to 37  Lifetime cost of disease up to $300,000 dollars per patient  New FDA approved drugs such as Orkambi™ (lumactafor/ivictafor) priced at $259,000 per year  Future cost estimates exceed $1 million dollars per patient

Genetic Overview  Mutation in CFTR gene is the problem  CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator  This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes  Cytogenetic Location: 7q31.2, which is the long (q) arm of chromosome 7 at position 31.2  More than 1,000 mutations in the CFTR gene have been identified in people with cystic fibrosis  The most common mutation, called delta F508, is a deletion of one amino acid at position 508 in the CFTR protein

Inheritance of Cystic Fibrosis

Percentage of CF gene changes found by the Screening Test  Ashkenazi Jewish 97%  Northern European Caucasian 90%  African American 70%  Hispanic Caucasian 57%  Asian American 30%

Clinical Overview  Chronic lifelong recurrent infections  Bronchopulmonary tract  Chronic sinusitis  Hereditary pancreatitis & pancreatic insufficiency  Diabetes mellitus  Congenital bilateral absence of the vas deferens (CBAVD)  Male infertility due to azoospermia

Predictive Medical Solutions™ Expanded Cystic Fibrosis Mutation Panel ▶ Predictive Medical Solutions™ working in collaboration with Emory University Genetics Laboratory offers an expanded CF mutation panel ▶ This assay detects 142 mutations in the CFTR gene, including the 23 mutations recommended by ACMG and ACOG ▶ Simple in office saliva collection methodology ▶ Analytical Sensitivity: ~99% ▶ Turn around time 2 weeks ▶ Covered by majority of commercial insurance payers

All CF carrier tests are NOT the same PM Solutions / Emory Sequenom LabCorp Progenity University Laoratories CFplus® CFnxt® Genetics HerediT® Laboratory Percentage of CF mutations tested that cause the disease Total # of 100% PM Solutions / mutations 142 136 97 147 Emory on panel University Genetics… CF- 92% Sequenom causing 142 125 78 94 Laboratories HerediT CF mutations (CFTR2) 80% LabCorp The CF expanded mutation panel is a laboratory-developed test and its performance characteristics CFplus® determined by PM Solutions & Emory University Genetics Laboratory. The test has not been cleared or approved by the U.S. FDA. Although laboratory-developed tests to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under the Clinical Laboratory Improvement Amendments to ensure the quality and validity of the tests. 64% Progenity CFnxt®

Who to test  Carrier screening is offered to couples when one partner has CF  Family history of CF  Individuals with a diagnosis of CF or atypical presentations of CF (chronic pancreatitis, sinusitis)  Males with congenital bilateral absence of the vas deferens (CBAVD) ~ male Infertility  Carrier screening for individuals of Caucasian or Ashkenazi Jewish background  Family members of an affected individual at risk to be carriers of CF

American Congress of Obstetrics & Gynecology (ACOG) Update on CF Screening  It is important that CF screening continue to be offered to women of reproductive age  It is increasingly difficult to assign a single ethnicity to individuals thus it is reasonable to offer CF screening to all patients  Screening is most efficacious in the non-Hispanic white and Ashkenazi Jewish populations

Additional Information  Genetic Counselors available  For questions regarding billing, supplies, clinical support contact us at:  [email protected]  1-800-690-7646