Evaluating genetic ancestry and self-reported ethnicity in the context of carrier screening

BMC Genomic Data

Table 1 Self-reported ethnicity reported on requisition forms vs. family history discussion

Ethnicity	Form	Consult	Both	% form that identified during consult	% consult that identified on form	p-value
African	206	200	191	92.7%	95.5%	0.307
East Asian	264	260	258	97.7%	99.2%	0.289
European	1815	1854	1708	94.1%	92.1%	1.67E-02
Jewish	403	431	380	94.3%	88.2%	1.52E-03
Latin American	333	332	318	95.5%	95.8%	1
Mediterranean	134	396	120	89.6%	30.3%	2.63E-64
Native American	70	122	64	91.4%	52.5%	9.03E-12
South Asian	139	140	121	87.1%	86.4%	1
South East Asian	128	114	99	77.3%	86.8%	0.049

Each row shows counts of the number of patients that selected each ethnicity on the requisition form, reported it during consult, and did both. Additionally the overlap proportions are shown. P-values were computed using McNemar’s test to assess if the proportions are significantly different

ISSN: 2730-6844