Can Strategene be used as a substitute for preconception genetic counseling?Updated 4 months ago

In short, no. We have taken the position not to include any polymorphisms that are listed as pathogenic in GeneCards.org or ClinVar. These pathogenic alleles typically are very rare. These polymorphisms are termed "rare variants of large effect" that result in autosomal recessive diseases that are mostly fatal or have severe consequences, often recognized shortly after birth. If StrateGene was to include all these variants for every gene in the report there would literally be tens of thousands of SNPs. We feel these variants are best handled through traditional genetic counseling. In reality, if a person had the risk allele of any of these type SNPs, at most they would be a carrier, and therefore unlikely to have many, if any consequences (although likely there are exceptions out there). The StrateGene report is designed to help identify what are known as "common variants of weak effect". And even then, the science about the penetrance/impact of the variant on phenotype/expression is not well developed. We have chosen to include only variants that have some proven effect on biochemistry or other traits that can be modified with lifestyle changes or supplements.