Questions about PHIPPA and Deadly Genetic Diseases

The rigorous application of the Personal Health Information Privacy Protection Act (PHIPPA) and the presence of known disease causing genes or genetic mutations raise a host of medical/legal/ethical challenges for doctors, patients and families. In my role as a patient advocate working on behalf of families affected by inherited heart rhythm disorders; a group of diseases typically transmitted by a dominant gene and therefore affecting on average half of all children of a gene positive parent; I meet several families and physicians each year that are facing serious challenges in balancing PHIPPA and the best interests of their loved ones and patients respectively.  Every year 700 young Canadians die suddenly from cardiac arrest caused by an underlying heart arrhythmia disease, for most death is the first indicator of the presence of disease. The challenge is to identify at risk individuals and get them the preventative treatment that they require before they go into cardiac arrest

This post does not have any answers it simply sets out to ask some of the questions.

Story One – A 22 year old male tests positive for Long QT Syndrome after a fainting episode at hockey practice. Follow-up testing finds his Mother is also gene positive for Long QT. His 26 year old cousin on his Mother’s side is pregnant with her first child and refuses to get tested. It is important to understand that if the female cousin and the baby both test positive there are many simple and effective options for preventing sudden death.

  • Can or should the healthcare system be able to force the mother to undergo testing to protect the unborn child?
  • Should there be exceptions to PHIPPA when minor children are known to be at risk?


The current system typically involves a letter written by a physician being sent to first degree relatives of the index patient asking them to consider being tested. If they do not respond to the request little else can be done.

  • Should Doctors and/or Genetic Counsellors be allowed to call or visit first degree relatives and explain their options and the pros and cons of undergoing testing?


Story Two – A 14 year old boy dies in his sleep. The initial autopsy fails to determine cause of death. Subsequent Molecular (genetic) autopsy determines that the cause of death was likely Brugada Syndrome. The parents are informed of the findings and it is strongly recommended that all first degree relatives undergo testing. No one in the family moves quickly to get tested. A year and a half later a 17 year old brother goes into cardiac arrest and Paramedics are unable to save him.

  • Should coroners in every province/state be required by law to complete genetic testing and inform known first degree relatives within a specific time frame, say 90-120 days ?
  • Should genetic swab kits be sent to all first degree relatives?
  • Should there be more rigorous guidelines for coroners and medical examiners following up on Sudden Unexpected Death in the Young including timelines and protocols for informing relatives?
  • Is there a way to protect healthcare professionals from disciplinary action when they pursue relatives of known gene positive patients?


Due to the constraints that PHIPPA puts on Doctor’s they often find themselves on shifting unstable ethical legal ground. When the disease they are contemplating is carried on a dominant gene there is a 50/50 chance that the knowledge they possess imparts potentially lifesaving information.

The 17 year old brother of the boy whose autopsy was positive for Brugada Syndrome died with his privacy intact.

  • Is that the intent of PHIPPA ?