LNCtips.com: Genomics in Medical Malpractice

You probably know about BRCA1 and BRCA2 and their relationship to breast cancer.  But do you know about duplications and deletions related to PTEN, the CDH1, and the PALB2 genes?  Testing of these genes, and many more, has exploded in the last few years.  What are the implications of genetic testing and genomics for medical malpractice?

Some forms of genetic testing, such as prenatal screening tests for Down syndrome and Trisomy 18, have been available for many years.  These screening tests, much like the BRCA test for breast cancer, identify the risk for specific genetic disorders.

Genomics, the mapping of genomes (the genetic material in cells), is relatively new in terms of its availability to the general public.  The genes in a genome are composed of 180,000 exons; this group of exons in the genome is called the exome.

The field of genomics looks at the exome and uses a mapping technique called whole exome sequencing to identify whether the genetic material has mutations in it.  Sometimes the mutation is a duplication of one or more exons and sometimes there is deletion of an exon.  In either case, the duplication or deletion may cause disorders.  For example, the PTEN can cause a variety of disorders such as Cowden's syndrome.  Alterations in the CDH1 gene can lead to a variety of cancers as can mutations in the PALB2 gene.

My review of medical malpractice literature revealed few instances of cases involving genomics. However, my personal belief is that as genomic testing becomes widely available, we will see more cases.  For example, I currently have a case involving a mother who alleged that she was not advised that her child could be born with a rare genetic disorder.  The child was indeed born with the disorder and, as a result, is blind, developmentally disabled and unable to perform any activities of daily living independently.  Whole exome sequencing revealed duplication of several exons. As in this case, I believe that allegations involving genomics will be failure to appropriately counsel patients with potential genetic disorders or refer the patients to qualified genetic counselors.

...Katy Jones