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In This Issue in This Issue © American College of Medical Genetics and Genomics IN THIS ISSUE IN THIS ISSUE Expanded carrier screening detects more Spinal muscular atrophy incidence lower at-risk couples than expected in New York State https://doi.org/10.1038/s41436-020-0807-4 https://doi.org/10.1038/s41436-020-0824-3 Non-AJ Total Individual carriers carriers screened (n) Niemann-Pick disease types A/B (SMPD1) 96.96 1070 1115 181,713 Fanconi Anemia Group C (FANCC) 88.03 353 401 181,713 Bloom Syndrome (BLM) 85.40 351 411 181,713 Gaucher Disease (GBA) 78.86 1175 1490 182,465 Tay-Sachs Disease (HEXA) 78.41 741 945 182,465 Mucolipidosis Type IV (MCOLN1) 74.88 152 203 181,713 Canavan Disease (ASPA) 71.15 296 416 182,465 Familial Dysautonomia (IKBKAP) 65.20 296 454 182,465 0204060 80 100 % carriers not reporting AJ ancestry Miguel Sanz/Getty Controlling head movement and sitting up unassisted are Many parents-to-be wonder whether their kids will be healthy. major developmental milestones for infants. But for babies Carrier screening (CS) lets peoplefindoutthechanceofpassing with the most serious form of spinal muscular atrophy on a genetic condition to their children. Traditionally, CS (SMA), a genetic condition that causes the motor neurons targeted specific genetic diseases prevalent in defined racial/ that control muscle movement to die, these hallmarks often ethnic populations. This approach, however, can miss potential remain unmet. The condition can also cause respiratory carriers. In this issue, Westemeyer and colleagues show that, complications and is a common genetic cause of death in compared with standard screening, expanded CS in a pan-ethnic infants and children. Incidence estimates for SMA range from population is able to detect more at-risk couples. To conduct the 1 in 6000 to 1 in 11,000 live births worldwide. Kay and retrospective analysis, clinicians provided the researchers with colleagues, on the basis of results from a population-based de-identified next-generation sequencing–based results from CS newborn screening program implemented in New York panels that included up to 274 genetic diseases along with race/ State (NYS), found that the incidence may be lower. NYS ethnicity information from more than 380,000 individuals. The implemented a universal SMA screening program for new- researchers then compared observed carrier frequencies with borns in 2018. SMA screening programs facilitate universal published, expected carrier frequencies. They found that and timely diagnosis when lifesaving treatments are most observed carrier rates were significantly different than expected effective. Over the course of the program’s first year, more for nearly half of all genes screened. The expanded CS also than 225,000 infants were screened by quantitative polymer- detected more carriers than disease-specific panels. For example, ase chain reaction for the most common genetic variant the standard panel for detecting variants in CTFR associated underlying SMA, deletion of exon 7 in the gene SMN1. Eight with cystic fibrosis would have missed 44% of carriers, as most infants were homozygous for the recessive condition, positive CTFR variants (95%) were not included in the targeted corresponding to an incidence of 1 in 28,137. This rate is genotyping panel. The panel would have missed four of the five 2.6- to 4.7-fold lower than expected compared with the often- most common CTFR variants observed among East Asians and cited incidence of 1 in 6000 to 1 in 11,000. When the South East Asians and three of the five most common variants researchers included screening data through February 2020 in among African Americans. Finally, the researchers calculated the their analysis, incidence bumped up to about 1 in 21,000. projected at-risk couple carrier frequency for 274 diseases. They The researchers suggest that the lower incidence in NYS is found that 2.3% of couples would be expected to be at risk, due in part to biased or imprecise prior estimates. For affecting 0.6% of theoretical pregnancies when assuming random example, previous SMA incidence estimates were derived couple pairing across ethnicities and no prior knowledge of risk from small European subpopulations, which are not repre- status. Risk ranged from 1.7% (Hispanic) to 5.9% (Ashkenazi sentative of the US population. Additionally, the authors Jewish) for couple pairing within race/ethnic groups, affecting suggest that informed reproductive decisions likely contrib- 0.5% (Hispanic) to 1.8% (Ashkenazi Jewish) of theoretical uted to the lower than expected occurrence. The authors pregnancies. The researchers conclude that there is benefit conclude that increased accuracy in establishing true SMA to applying expanded CS to all individuals and that targeted incidence will come with time as further data from other CS based on ethnicity and family history may warrant re- screening programs become available. —V. L. Dengler, examination. —V. L. Dengler, News Editor News Editor Genetics in Medicine (2020) https://doi.org/10.1038/s41436-020-0901-7 GENETICS in MEDICINE | Volume 22 | Number 8 | August 2020 1283.
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