Cost effectiveness of in vitro fertilisation and preimplantation genetic testing to prevent transmission of BRCA1/2 mutations

2020 ◽  
Vol 35 (2) ◽  
pp. 434-445 ◽  
Author(s):  
Joseph H Lipton ◽  
Mahdi Zargar ◽  
Ellen Warner ◽  
Ellen E Greenblatt ◽  
Esther Lee ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cost Effectiveness ◽  
Brca Mutation ◽  
Brca2 Mutation ◽  
Cost Effective ◽  
In Vitro Fertilisation ◽  
Brca1 And Brca2 ◽  
Preimplantation Genetic Testing ◽  
The Cost

Abstract STUDY QUESTION Is it cost-effective to use in vitro fertilisation and preimplantation genetic testing of monogenic defects (IVT/PGT-M) to prevent transmission of BRCA1/2 mutations to second-generation new births in comparison with naturally conceived births? SUMMARY ANSWER In this cost-effectiveness analysis, we found that IVF/PGT-M is cost-effective for BRCA1 and BRCA2 mutation carriers if using a willingness to pay of $50 000 per quality-adjusted life-year (QALY). WHAT IS KNOWN ALREADY Carriers of a BRCA1 or BRCA2 mutation have a significantly increased risk of several types of cancer throughout their lifetime. The cost of risk reduction, screening and treatment of cancer in this population is high. In addition, there is a 50% chance of passing on this genetic mutation to each child. One option to avoid transmission of an inherited deleterious gene to one’s offspring involves in vitro fertilisation with preimplantation genetic testing. STUDY DESIGN, SIZE, DURATION We implemented a state transition model comparing the healthcare impact of a cohort of healthy children born after IVF/PGT-M, who have a population risk of developing cancer, to a cohort of naturally conceived live-births, half of whom are carriers of the BRCA mutation. Transition probabilities are based on published sources, a lifetime horizon and a perspective of a provincial Ministry of Health in Canada. PARTICIPANTS/MATERIALS, SETTING, METHODS The target population is the second-generation new births who have at least one parent with a known BRCA1 or BRCA2 mutation. MAIN RESULTS AND THE ROLE OF CHANCE At a willingness-to-pay threshold of $50 000 per QALY, IVF/PGT-M is a cost-effective intervention for carriers of either BRCA mutation. For BRCA1, the incremental cost-effectiveness ratio (ICER) for IVF/PGT-M is $14 242/QALY. For BRCA2, the ICER of intervention is $12 893/QALY. Probabilistic sensitivity analysis results show that IVF/PGT-M has a 98.4 and 97.3% chance of being cost-effective for BRCA1 and BRCA2 mutation carriers, respectively, at the $50 000/QALY threshold. LIMITATIONS, REASONS FOR CAUTION Our model did not include the short-term negative effect of IVF/PGT-M on the woman’s quality of life; in addition, our model did not consider any ethical issues related to post-implantation genetic testing. WIDER IMPLICATIONS OF THE FINDINGS In countries in which the healthcare of a large segment of the population is covered by a single payer system such as the government, it would be cost-effective for that payer to cover the cost of IVF/PGT-M for couples in which one member has a BRCA mutation, in order to avoid the future costs and disutility of managing offspring with an inherited BRCA mutation. STUDY FUNDING/COMPETING INTEREST(S) Dr Wong’s research program was supported by the Canadian Institutes of Health Research (CIHR), the Natural Sciences and Engineering Research Council (NSERC), the Canadian Liver Foundation and an Ontario Ministry of Research, Innovation and Science Early Researcher Award. All authors declared no conflict of interests.

scholarly journals Preimplantation Genetic Testing for BRCA Gene Mutation Carriers: a Cost Effectiveness Analysis

2021 ◽  
Author(s):  
Nadav Michaan ◽  
Moshe Lashno ◽  
Yoni Cohen ◽  
Tamar Safra ◽  
Shira Peleg-Hasson ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cost Effectiveness ◽  
Embryo Transfer ◽  
Brca Mutation ◽  
Cost Effective ◽  
Preimplantation Genetic Testing ◽  
Mutation Carriers ◽  
Brca Mutation Carriers ◽  
Natural Conception ◽  
Brca Negative

Abstract Background: Gynecologic oncologists should be aware of the option of conception through IVF/PGT-M for families with high BRCA related morbidity or mortality. Our objective was to investigate the cost-effectiveness of preimplantation genetic testing for selection and transfer of BRCA negative embryo in BRCA mutation carriers compared to natural conception.Methods: Cost-effectiveness of two strategies, conception through IVF/PGT-M and BRCA negative embryo transfer versus natural conception with a 50% chance of BRCA positive newborn for BRCA mutation carriers was compared using a Markovian process decision analysis model. Costs of the two strategies were compared using quality adjusted life years (QALYs'). All costs were discounted at 3%. Incremental cost effectiveness ratio (ICER) compared to willingness to pay threshold was used for cost-effectiveness analysis.Results: IVF/ PGT-M is cost-effective with an ICER of 150,219 new Israeli Shekels, per QALY gained (equivalent to 44,480 USD), at a 3% discount rate. Conclusions: IVF/ PGT-M and BRCA negative embryo transfer compared to natural conception among BRCA positive parents is cost effective and may be offered for selected couples with high BRCA mutation related morbidity or mortality. Our results could impact decisions regarding conception among BRCA positive couples and health care providers

scholarly journals Preimplantation genetic testing for BRCA gene mutation carriers: a cost effectiveness analysis

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Nadav Michaan ◽  
Moshe Leshno ◽  
Yoni Cohen ◽  
Tamar Safra ◽  
Shira Peleg-Hasson ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cost Effectiveness ◽  
Brca Mutation ◽  
Cost Effective ◽  
Preimplantation Genetic Testing ◽  
Effectiveness Analysis ◽  
Mutation Carriers ◽  
Brca Mutation Carriers ◽  
Natural Conception ◽  
Brca Negative

Abstract Background Gynecologic oncologists should be aware of the option of conception through IVF/PGT-M for families with high BRCA related morbidity or mortality. Our objective was to investigate the cost-effectiveness of preimplantation genetic testing for selection and transfer of BRCA negative embryo in BRCA mutation carriers compared to natural conception. Methods Cost-effectiveness of two strategies, conception through IVF/PGT-M and BRCA negative embryo transfer versus natural conception with a 50% chance of BRCA positive newborn for BRCA mutation carriers was compared using a Markovian process decision analysis model. Costs of the two strategies were compared using quality adjusted life years (QALYs’). All costs were discounted at 3%. Incremental cost effectiveness ratio (ICER) compared to willingness to pay threshold was used for cost-effectiveness analysis. Results IVF/ PGT-M is cost-effective with an ICER of 150,219 new Israeli Shekels, per QALY gained (equivalent to 44,480 USD), at a 3% discount rate. Conclusions IVF/ PGT-M and BRCA negative embryo transfer compared to natural conception among BRCA positive parents is cost effective and may be offered for selected couples with high BRCA mutation related morbidity or mortality. Our results could impact decisions regarding conception among BRCA positive couples and health care providers.

scholarly journals Preimplantation genetic testing for BRCA gene mutation carriers: a cost effectiveness analysis

2021 ◽  
Author(s):  
Nadav Michaan ◽  
Moshe Lashno ◽  
Yoni Cohen ◽  
Tamar Safra ◽  
Shira Peleg-Hasson ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cost Effectiveness ◽  
Embryo Transfer ◽  
Brca Mutation ◽  
Cost Effective ◽  
Cost Effectiveness Analysis ◽  
Preimplantation Genetic Testing ◽  
Effectiveness Analysis ◽  
Natural Conception ◽  
Brca Negative

Objective: Gynecologic oncologists should be aware of the option of conception through IVF/PGT-M for families with high BRCA related morbidity or mortality. Our objective was to investigate the cost-effectiveness of preimplantation genetic testing for selection and transfer of BRCA negative embryo in BRCA mutation carriers compared to natural conception. Design: Markovian process decision analysis model comparing two strategies, conception through IVF/PGT-M and BRCA negative embryo transfer and natural conception with a 50% chance of BRCA positive newborn. Setting: Not applicable Population: Theoretical couple, with either one parent carrying a BRCA germ line mutation. Intervention: None Methods: Costs of two strategies were compared using quality adjusted life years (QALYs’). All costs were discounted at 3%. Main outcome measure: Incremental cost effectiveness ratio (ICER) compared to willingness to pay threshold was used for cost-effectiveness analysis. Results: IVF/ PGT-M is cost-effective with an ICER of 150,219 new Israeli Shekels, per QALY gained (equivalent to 44,480 USD), at a 3% discount rate. Conclusion: IVF/ PGT-M and BRCA negative embryo transfer compared to natural conception among BRCA positive parents is cost effective and should be considered for selected couples with high BRCA mutation related morbidity. Funding: No funding of any kind was received for this article

Expanding insurance coverage for in vitro fertilisation with preimplantation genetic testing: putting the cart before the horse

2021 ◽  
pp. medethics-2020-106940
Author(s):  
Emily C Lisi
Keyword(s):  
Genetic Testing ◽  
High Risk ◽  
Diagnostic Tool ◽  
Insurance Coverage ◽  
Genetic Services ◽  
In Vitro Fertilisation ◽  
Genetic Condition ◽  
Preimplantation Genetic Testing ◽  
Definition Of

Madison Kilbride recently argued that insurance (eg, Centers for Medicare & Medicaid Services (CMS)) should cover in vitro fertilisation with preimplantation genetic testing (IVF-PGT) services for couples at high risk of having a child affected with a genetic condition. She argues that IVF-PGT meets CMS’s definition of ‘medically necessary care’, where such care includes ‘services or supplies needed to diagnose or treat an illness, injury, condition, disease or its symptoms’. Kilbride argues that IVF-PGT satisfies this definition in two ways: as a diagnostic tool and as a treatment. Contradicting Kilbride, however, I argue that IVF-PGT provides neither diagnosis nor treatment under CMS’s definition. Thus, as long as we accept CMS’s definition of medically necessary care—which Kilbride does, explicitly—it follows that IVF-PGT does not count as medically necessary care. Still, there may be other reasons to conclude that IVF-Preimplantation genetic testing should be covered, and so, it would be a mistake to reject Kilbride’s conclusion altogether. The problem is simply that Kilbride’s argument—that the procedure should be covered because it is medically necessary per CMS’s definition—is not sound. I conclude by discussing a number of other genetic services that are not currently being covered despite the fact that (unlike IVF-PGT) they do seem to satisfy CMS’s definition of ‘medically necessary diagnosis or treatment’. These services, I argue, should be provided under CMS before we consider expanding coverage to include elective procedures such as IVF-PGT.

scholarly journals The cost-effectiveness of preimplantation genetic testing for aneuploidy (PGT-A): an analysis of 153,865 SART cycles

2019 ◽  
Vol 112 (3) ◽  
pp. e234
Author(s):  
Malinda S. Lee ◽  
Katherine T. Lofgren ◽  
Ann M. Thomas ◽  
Andrea Lanes ◽  
Randi H. Goldman ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Cost Effectiveness ◽  
Preimplantation Genetic Testing ◽  
The Cost

scholarly journals In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 697
Author(s):  
Bogdan Doroftei ◽  
Loredana Nemtanu ◽  
Ovidiu-Dumitru Ilie ◽  
Gabriela Simionescu ◽  
Iuliu Ivanov ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Congenital Disorder ◽  
In Vitro Fertilisation ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Preimplantation Genetic Testing ◽  
Congenital Disorder Of Glycosylation ◽  
Monogenic Diseases ◽  
Type Ia

Background: Congenital disorder of glycosylation (CDG) is a severe morphogenic and metabolic disorder that affects all of the systems of organs and is caused by a mutation of the gene PMM2, having a mortality rate of 20% during the first months of life. Results: Here we report the outcome of an in vitro fertilisation (IVF) cycle associated with preimplantation genetic testing for monogenic diseases (PGT-M) in a Romanian carrier couple for CDG type Ia with distinct mutations of the PMM2 gene. The embryonic biopsy was performed on day five of the blastocyst stage for six embryos. The amplification of the whole genome had been realized by using the PicoPLEX WGA kit. Using the Array Comparative Genomic Hybridisation technique, we detected both euploid and aneuploid embryos. The identification of the PMM2 mutation on exon 5 and exon 6 was performed for the euploid embryos through Sanger Sequencing with specific primers on ABI 3500. Of the six embryos tested, only three were euploid. One had compound heterozygosity and the remaining two were simple heterozygotes. Conclusion: PGT-M should be strongly considered for optimising embryo selection in partners with single-gene mutations in order to prevent transmission to the offspring.

Moving Toward Personalized Medicine: Treatment-Focused Genetic Testing of Women Newly Diagnosed With Ovarian Cancer

2010 ◽  
Vol 20 (5) ◽  
pp. 704-716 ◽  
Author(s):  
Alison H. Trainer ◽  
Bettina Meiser ◽  
Kaaren Watts ◽  
Gillian Mitchell ◽  
Kathy Tucker ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Mutation Frequency ◽  
Brca Mutation ◽  
Brca2 Mutation ◽  
Age At Onset ◽  
Prognostic Significance ◽  
Brca1 And Brca2 ◽  
Germline Brca Mutation

Objectives:The presence of a germline BRCA mutation defines a genotype-specific group of women whose invasive ovarian cancer is associated with an increasingly well-defined prognostic and chemosensitivity biological profile. To determine the criteria that may be used to select patients for BRCA treatment-focused genetic testing, we performed a systemic literature search of studies that assessed BRCA1 and BRCA2 mutation frequency in women with ovarian cancer unselected for family history. The results are discussed with regard to the added clinical value gained by identifying a germline BRCA mutation at the time of the ovarian cancer diagnosis.Methods:BRCA-related studies were identified in the CD-ROM databases PubMed (including MEDLINE), PsychINFO, and CINAHL and included in the review if they met the following criteria: they (a) assessed mutation frequency in women with ovarian cancer who were unselected for family history and ethnicity, (b) were published in a peer-review journal, (c) between January 1997 and October 2009, and (d) in the English language.Results:Studies investigating the prevalence of BRCA1 or BRCA2 mutations in ovarian cancer patients unselected for family history or ethnicity have found a pathological BRCA mutation rate of approximately 3% to 17%. Without a significant family history, specific features that may be used to target treatment-focused BRCA testing in the ovarian cancer setting include young age at onset (<50 years), high-grade serous tumor histology, and specific ethnicity associated with known BRCA founder mutations.Conclusions:We believe that given the growing appreciation of the prognostic significance of BRCA mutations and the differential chemosensitivity shown by these tumors, as well as the potential of novel agents such as poly(ADP-ribose) polymerase inhibitors, the identification of a germline BRCA mutation concurrent with a new diagnosis of ovarian cancer will significantly impact on tailoring personalized ovarian management in the future.

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