PGD for all cystic fibrosis carrier couples: novel strategy for preventive medicine and cost analysis

I Tur-Kaspa1, G Aljadeff, S Rechitsky

  • 1Institute for Human Reproduction (IHR), 2825 N Halsted St., Chicago, IL 60657, USA. DrTK@infertilityIHR.com

Insights

A national IVF-PGD program can prevent cystic fibrosis (CF) births, offering significant lifetime cost savings. This cost-effective preventive medicine approach avoids debilitating genetic diseases and reduces healthcare burdens.

Area of Science:

  • Medical Genetics
  • Reproductive Medicine
  • Health Economics

Background:

  • Cystic Fibrosis (CF) affects over 1000 children annually in the USA.
  • In Vitro Fertilization (IVF) with Preimplantation Genetic Diagnosis (PGD) offers an alternative to managing CF or pregnancy termination.
  • The economic and health impacts of CF necessitate exploring preventive strategies.

Purpose of the Study:

  • To conduct a cost-benefit analysis of a national IVF-PGD program for preventing CF births.
  • To compare the costs of IVF-PGD for CF carriers with the direct medical costs of treating CF patients.
  • To evaluate the potential savings and health benefits of widespread IVF-PGD for CF prevention.

Main Methods:

  • Cost-benefit analysis comparing IVF-PGD program costs against avoided direct medical costs of CF.
  • Estimation of annual and lifetime treatment costs per CF patient.
  • Calculation of cumulative net savings over 37 years for a national program.

Main Results:

  • Treating 4000 CF carrier-couples annually via IVF-PGD costs $57,467 per healthy baby delivered.
  • Lifetime savings per CF patient are estimated at $2.3 million, with annual savings of $2.2 billion for all new CF patients.
  • A 37-year national program could yield a cumulative net saving of $33.3 billion, preventing 618,714 years of suffering.

Conclusions:

  • A national IVF-PGD program for CF prevention is highly cost-effective.
  • This program represents a novel preventive medicine modality.
  • It can significantly reduce births of individuals with CF and associated suffering and healthcare costs.

Related Concept Videos

Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic sinusitis...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450 isoenzymes,...
Probability Laws01:49

Probability Laws

Overview
Impact of Pharmacokinetic–Pharmacodynamic Models: Regulatory Decisions01:15

Impact of Pharmacokinetic–Pharmacodynamic Models: Regulatory Decisions

PK–PD modeling has significantly influenced FDA regulatory decisions, particularly drug approval, dosage optimization, and labeling. These models integrate pharmacokinetics (PK) and pharmacodynamics (PD) to predict drug behavior and effects, aiding in optimizing dosing regimens and enhancing the probability of clinical trial success.One notable example is Nesiritide (Natrecor®), a recombinant human brain natriuretic peptide for treating acute decompensated congestive heart failure (CHF).