The final installment of research presented as posters at this year’s American College of Medical Genetics & Genomics conference.
RESULTS: Compared with [First Trimester Testing (FTS)] in the general-risk population, SNP-based NIPT resulted in >560,000 fewer confirmatory invasive tests and 4,631 more births without the tested abnormalities annually in the US. SNP-based NIPT is expected to add more than 203,000 QALYs, more than 65% of which is related to more healthy births. Cost offsets were related to fewer confirmatory tests ($843 million), lower direct care cost for newborns with aneuploidies ($579 million), and losses in parental work productivity ($490 million). Most influential parameters were test performance (i.e., sensitivity/specificity), willingness of third-party payers and society in general to reimburse for avoidance of parent anxiety/regret, and parental decision making after a confirmatory invasive test. Net cost offset per patient tested, compared with FTS, was $907 for general-risk and $1,470 for high-risk population. Compared with other clinically available NIPTs, the costs offset of SNP-based NIPT exceeded $159 per general-risk and $391 per high-risk pregnancy.
CONCLUSIONS: SNP-based NIPT, compared with FTS and other NIPTs, is projected to reduce unnecessary invasive confirmatory procedures, reduce incidence of fetal demise, increase healthy births, increase parental/newborn health status, lower other direct medical costs, and increase work productivity.
(emphasis added). See, NIPS is saving society money through “parental decision making after a confirmatory invasive test” resulting in an “increase [in] healthy births” and thus “lower other direct medical costs.” How is this exactly? How is it that Natera’s Panorama test is resulting in healthier births and lower medical costs? What parental decision following a confirmatory invasive test does this study hinge on for its conclusion? [For a related post on cost-effectiveness studies, see this link.]
AMA women choose NIPS over traditional screening and invasive testing plummets
Poster 396: A hospital in New Jersey instituted a specific protocol for women 35 and over. They received genetic counseling and then were offered NIPS, integrated screening, and invasive testing. 69% chose NIPS, 16% no testing, 14% invasive testing, and only 0.5% integrated screening. The authors conclude that the new protocol resulted in fewer invasive testing procedures.
Medicaid reimburses only 1/3 of genetic counseling sessions
Poster 438: Reimbursement for genetic counseling at a single institution. In Sioux Falls, South Dakota, where there is a licensure process for genetic counseling, reimbursement rates for genetic counseling are abysmal:
Of those 655 encounters, 795 units were billed with an average reimbursement rate of 33.19%. … A total of 33 insurance companies were billed with all but 4 providing some level of reimbursement. Medicaid was billed for 30 encounters with 10 receiving 100% reimbursement (the remaining receiving none). Medicare was billed for 45 encounters with 5 receiving 100% reimbursement (the remaining receiving none).
Another study finding invasive testing plummeting with introduction of NIPS
Poster 592: Effects of improved serum screening on invasive screening. Yet another facility that found the introduction of NIPS results in fewer invasive testing being performed.
Limitations of new blood test for rare genetic conditions
Poster 608: Limitations of NIPS. In a speciality high-risk practice, researchers note the limitations of NIPS for rare conditions like Trisomy 13 and microdeletion disorders:
In both of these cases, the PPV is low and a positive NIPT result creates anxiety and is unlikely to yield useful information for management of the pregnancy or the newborn. A positive NIPT result may also lead to amniocentesis for women who had previously declined invasive testing, resulting in an increased risk of miscarriage or pregnancy complication. As NIPT screening advances into more rare conditions, the issues of low PPV will increase.
Negative NIPT screening in patients with ultrasound anomalies can create a false sense of reassurance that the baby does not have a genetic syndrome and/or the sense of improved prognosis for the baby. These cases illustrate the need for genetic counseling and thoughtful consideration of available screening and testing options as NIPT screening advances.
Buckeyes opt for NIPS over invasive testing, unless considering selective abortion
Poster 610: NIPS or Invasive testing: how do women choose? At THE Ohio State University, a survey of women considered high-risk finds that they will opt for NIPS over invasive testing to avoid risk of miscarriage, but will proceed with invasive testing following an positive NIPS result and when considering terminating the pregnancy based on a genetic condition.
NIPS results in 60% fewer invasive tests
Poster 612: NIPS and invasive testing in managed care setting. Across four medical centers in Southern California, NIPS offered to high-risk patients resulted in 60% fewer invasive testing. Again, NIPS is causing invasive procedures to plummet.
(Posters 396, 592, and 612 each show how NIPS is resulting in invasive testing plummeting. For more on this dynamic, and how it threatens to make invasive testing more risky for miscarriage, see this post).