Questions about
PHIPPA and Deadly Genetic Diseases
The rigorous application of the Personal Health Information
Privacy Protections 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 ?
