Families and Personalized Genetic Testing

 

This guest post is from Summer Crump, Physician’s Assistant and current Regent Law 2L taking Bioethics and Professional Responsibility:

 

Families will benefit from an understanding of personalized genetic testing and how it might impact the future for family members.

Personalized genetic testing in the Emergency Department is making headway in select hospitals. These include cell-free DNA (cfDNA), or also known as free-cell DNA (fcDNA), which are nucleic acid fragments in the bloodstream that are, under normal circumstances, cleaned up by macrophages (essentially, cells that digest bacteria and other cells). The working theory pertaining to these cells is that overproduction of common cancer or tumor cells (e.g., lung or breast cancer) leave extra cfDNA in the bloodstream, which in theory, may assist in cancer diagnoses. The sensitivity and specificity are considerably high for the detection of these cells. These cell markers are also able to determine if patients are septic (severe blood infection with a high mortality rate) by performing a subsampling to screen for pathogenic bacteria based on cfDNA sequencing. Additionally, cfDNA has helped clinicians determine whether a patient has a drug allergy, and whether there are any acute cardiopulmonary manifestations present based on these markers.

The most common use of this DNA testing is to determine if a fetus has any genetic defects (but this is performed in the outpatient setting outside of the ER). 

This information may be helpful to the patient, but it may also be something the patient wishes to keep private, to protect the family member, a child, or an unborn child. 

While the modality of rapid genetic testing in the ER and inpatient setting may be useful to clinicians, a patient should consider whether he or she would want this test to be commonly performed on patients presenting with a severe or complex condition. For patients, parents, or expecting patients, it is important to remember that any information obtained through testing is documented in the medical record, and insurers (whether through the employer or through private insurance) will have access to these results. 

Protecting your privacy and that of your family members is a significant aspect of health care, and can make a difference for good or for ill for every family member’s future.