Dying with your Privacy Intact

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 ?

Mandatory Arrhythmia Awareness in all CPR Classes

This year, like every year, more than 7,700 people age 35 and under will die suddenly of cardiac causes in the US and Canada. Roughly half of them will experience fainting episodes or exhibit other warning signs in the months, weeks and days prior to their death. If these sentinel events are recognized and acted upon a great number of at risk young people will not die.  Several of the diseases that underlie paediatric Sudden Cardiac Arrest are genetic, with a dominant gene transmission pattern, and therefore many asymptomatic first degree relatives might also be saved.

All properly taught certification level CPR training includes a discussion on Heart Attack and Stroke warning sign recognition and management. It is time to include a discussion on recognizing and responding to the warning signs of paediatric heart arrhythmia diseases in every CPR class with extra attention being given to the discussion for classes being taught to educators, coaches and any adults that are responsible for the well-being of children.

The basic warning signs of inherited heart rhythm disorders are as follows:

·        Fainting (syncope) or seizure during or shortly after physical activity, especially if it happens repeatedly

·        Fainting (syncope) or seizure resulting from emotional excitement, emotional distress, or auditory startle

·        Family history of unexpected sudden death during physical activity or during a seizure, or any other unexplained sudden death of an otherwise healthy young person

Other warning signs include; brown outs (near fainting); a strong sensation of palpitation or racing heart; extreme shortness of breath (new) with exertion - more so than other children.

The recommended response to all loss of consciousness fainting is to Call 911, even if the child quickly regains consciousness and “seems fine”. For both fainting and all other warning signs parents should be advised of the event, provided with information (a pamphlet or a link to a web page) on heart rhythm disorders and encouraged to consult a physician that is trained to recognize paediatric arrhythmia. 

Every CPR Training Agency, both not-for-profit and private, should be required by state or provincial law to include a discussion of the warning signs of Paediatric Inherited Heart Rhythm Disorders in every class.  Special attention should be given to the topic when the audience is educators, coaches or any other group that works directly with young people.  Already eight states have passed or are considering legislation that will make awareness training of paediatric heart rhythm disorders mandatory for coaches, sport officials and physical education teachers. We need every state and province to mandate this training as a required component of every CPR class.

The evidence to support the inclusion of Arrhythmia Awareness in every CPR class is abundant und unequivocal. The International Liaison Committee on Resuscitation (ILCOR) was asked to consider a recommendation to include Arrhythmia Awareness in all Basic Life Support training classes as part of the 2010 BLS Guideline Recommendations.  They chose a softer position regarding the follow-up by coroners of all potentially cardiac related deaths of young people. Even if ILCOR chooses to ignore the evidence state and provincial legislators can still choose to act in the best interest of at-risk young people.

A Five Point Cardiac Arrest Prevention Strategy for Canadian Schools

Here is an excerpt from an article written on research presented by Dr. Andrew Krahn at the 2012 Canadian Cardiovascular Congress.

“Our research gives us an idea of the scope of the problem – there are almost 200 young people who die suddenly every year in Ontario. A good proportion of them have unrecognized heart disease. So the question is: How can we catch this before it happens,” says Krahn.

He suggests that more attention be paid to possible warning signs such as fainting. He believes that teachers, coaches and an aware public may be key to detecting risk, ensuring prevention and formal medical evaluation and therapy.

“I would advocate for careful screening of people who faint, using questionnaires and education of healthcare professionals so that when warning signs present themselves, they recognize them and this information gets passed on to the right people,” he says.

http://news.bioscholar.com/2012/10/hidden-disease-sports-sudden-cardiac-arrest.html

With virtually no hard cost every School Board could implement Dr. Krahn’s recommendations for preventing sudden death in children. The five key elements of a Cardiac Arrest Prevention Strategy are: 

A 20 Minute Arrhythmia Awareness Training Program that provides some background on Inherited Heart Rhythm Disorders (IHRD) and explains the warning signs and how to respond appropriately to those warnings. It should be available on-line to all staff and families but should be mandatory for all staff taking AED/CPR certification training and for all Physical Education Teachers and Coaches

A Pre-Participation Screening Questionnaire that would be completed by all parents/guardians at the time of enrolment at a new school. When there are positive answers in both the patient history and family history sections of the questionnaire the family should consult a physician immediately.
http://leadingcause.blogspot.ca/2013/05/inherited-heart-rhythm-disorder-pre.html

Mandatory 9-1-1 Calling  for Loss-of-Consciousness Fainting (syncope) It may be mandatory 9-1-1 for all syncope or at the very least mandatory 9-1-1 for all syncope occurring during or shortly after physical activity. In most communities ambulance are equipped with ECG monitoring equipment and paramedics are trained in heart rhythm recognition. Our tax dollars paid for this equipment and training it only makes sense to use it. 

Mandatory Notification of Parents/Guardians of all Syncope including providing them with information about IHRD’s. Parent's must be informed on the day of the event and must be provided with information that will help them understand the significance of fainting and other warning signs and the importance of physician follow-up. 

Mandatory Medical Clearance for Return to Play Post Syncope Perhaps the most tragic teen deaths are those where there is one or more fainting episodes in the weeks or months prior and the child is allowed to continue to participate in physical activity and dies because of it.

Pennsylvania has passed a law that includes several of these elements. Many other states including Maryland, Ohio and Indiana have pending Sudden Cardiac Arrest Prevention Legislation. Ontario allowed a bill to die on the order paper and it has yet to be revived despite having unanimous support at first and second reading.

If provincial or state legislation is not pending in your jurisdiction go ahead and implement these policies and best practices in your School Board. Work together with local paediatric cardiologists/electrophysiologists to develop the messaging around warning signs. Work with local EMS and ER Physicians to develop policies and practices around 9-1-1 calling for syncope. Trust that mandatory 9-1-1 calling for syncope (especially a child's first faint) occurring on school property will not create an avalanche of unnecessary "nuisance" calls, it won't. Remember that Automated External Defibrillators don't always work, it is better to prevent cardiac arrest than to try and reverse it with an AED.

One in twenty paediatric faints are sinister (the good news is that 19 in 20 are benign) but that number goes up if physical activity was the obvious trigger.  From a risk management standpoint it makes sense to be proactive on fainting and for the well being of our children it is imperative that all fainting be investigated.

When a child is diagnosed with an Arrhythmia

I wanted to throw out some thoughts on looking for and finding heritable heart arrhythmia in children. The spectrum of opinions on whether we should even be looking for heritable disease and what to do once we find it is broad. When I began my journey into the world of Inherited Heart Rhythm Disorders (IHRD's) I thought the answers to all of these questions were self-evident but I now recognize that there are valid opinions on all sides. This blog is a random unstructured list of questions and concerns that have no right and/or wrong answer. These are immensely complex medico-legal, moral, ethical, philosophical, religious, societal, familial issues and a 500 word blog does not even make the tiniest scratch on the tip of the iceberg.

• Why would we want to know that our child has an Inherited Heart Rhythm Disorder? Because there are effective therapies for most IHRD's and because left untreated IHRD's may result in sudden death would be the obvious answer. That said there are people that choose to play the hand life has dealt them without taking action to change what they believe fate may have in store for them.
• Will a positive diagnosis disqualify my child from buying life insurance? Almost assuredly. However, will a cheque from an insurance company bring back your child or truly compensate for your loss? There are numerous ways to invest on your child's behalf that will pay equal or greater future dividends. The term "life insurance" is an oxymoron. I'm blown away when people give this as a reason for not testing their at-risk children.
• Will a positive diagnosis limit my child's career choices? Absolutely. Of course we all have limited career choices ... despite my desire to play professional hockey I was born with a serious talent deficit.  If your brother tests positive for an IHRD should you get tested or simply carry on with your plan to become a commercial airline pilot? Who will be responsible if you die at the controls and the plane crashes killing everyone on board?
• What if a false positive wrongly curtails my child's participation in athletics? The first question I ask in response to this concern is "When is a diagnosis considered positive?" If an initial ECG results in further tests being ordered is that a positive diagnosis or is it simply an ECG that suggests further testing is required? If follow-up testing takes two months and the Doctor recommends no competitive athletics until she has made a definitive diagnosis what has been lost ? Will missing a few game and practices while you wait for the right diagnosis change your child's career path, especially if they are truly gifted? Will you be able to live with yourself if your child dies because you chose not to miss the "big" tournament?  Everyone with skin in this game knows a family that made the wrong decision.
• What if a true positive ends my child's athletic career? Very few of the truly great or even  good people on this earth are elite athletes. Of the elite athletes that are good or great people it is not their athleticism that makes them that way. If a child has special attributes that allow them to be a great athlete they will be able to apply those attributes to other areas of life which may include coaching or officiating in sport. Most people accomplish very little after their death.
• What if my child refuses to give up sport? You are the parent, you must decide what is best for your child. Prior to a child attaining the age of majority it is up to parents and guardians to act in the child's best interest.
• What if I test positive and my sister refuses to have herself or her children tested? This is almost too scary to contemplate, but it happens. I guess the best starting point is communication, and lots of it. Talk to everyone that might be able to help and exhaust all of the possibilities while keeping in mind that you do not have the final say.
• What happens when Personal Health Information Privacy Laws come into conflict with the best interest of a minor child? This is a very thorny issue and people with many letters behind their names could debate this one for days. These often poorly formed laws were never intended to place a Doctor in the position of choosing between his career and the life of a child. 

Above are eight questions out of the hundreds of questions that can and should be asked when contempalting heritable disease. Over the past decade I have been exposed to many sides of these issues. With each passing year I am less astounded by the positions that people take on these matters and hopefully more accepting of views different than my own. Always I hope and pray that where children are involved preserving life is the foremost priority.

Screening Teens for Heart Arrhythmia

In Ontario, Canada the billing price for an ECG is $14.00.  The cost of accessing health care services is different in every country as is the ability of each system to deliver services.  However the real cost of ECG is minuscule relative to the information it provides and the ease with which  that information can be acquired.  Virtually everyone in the health care system from Paramedics to RN's to GP's to Cardiologists are trained (and often equipped) to acquire an ECG.  Reading and interpreting ECG's requires special skills and training however many health care professionals are very good at spotting suspicious ECG's that should be referred to a specialist.  The current generation of ECG monitors are programmed with excellent algorithms that are more accurate than many people at spotting trouble.

When people set out to do a repetitive task they design efficiencies into the system and continually refine their methods while monitoring for quality assurance and quality improvement.  I submit that within two years a digital system that acquires an ECG for every Grade 9 student in Ontario and attaches it to their permanent health record could be in operation and the cost per child would be less than $7.00.

This long preamble is my way of saying we should acquire an ECG for every teenager in Canada or your Country here.  My personal interest in ECG Screening is that I advocate for individuals and families living with an Inherited Heart Rhythm Disorder;  those that have a diagnosis and more importantly those that are unaware that they are living with a potentially lethal disease.  A complete patient and family history along with an ECG provides an excellent starting point for identifying at-risk individuals and families. Papers published on various screening programs that have been piloted around the world suggest that somewhere between 1 in 120/150 young people screened will be recommended for follow-up with a cardiologist. I have seen no published articles that follow these individuals however given that most heart rhythm disorders are genetic the yield for individuals with a definitive diagnosis as result of screening will be multiplied as affected family members are identified.  In addition to screening for arrhythmia an even greater benefit to the patient and the health care system will come from having a baseline ECG attached to every patients permanent file, which Doctors can and will refer to throughout that patients life.

All children should be screened. So much of the conversation around screening speaks to athletes. Genetic disease does not recognize athletic ability. Only one third of young people killed by an Inherited Heart Rhythm Disorder were engaged in physical activity preceding sudden death. Intense physical activity is one known trigger for cardiac arrest in patients with an inherited heart rhythm disorder, as is auditory startle, from an alarm clock perhaps, as is emotional distress, such as a pending Math exam. When a young athlete dies in a filled to capacity sporting venue there is going to be  a media storm. For every athlete that dies during a game there are two or more children that die outside of the media spotlight, many, perhaps most, are non-athletes. The prevalence of genetic heart disease is spread equally across children of all different abilities and capabilities. Every child deserves equal attention.

All medical screening program generates a small percentage of false positives. An ECG that requires follow-up is not a positive test it is an ECG that requires follow-up. There is no diagnosis until the Cardiologist has completed their work and made a determination. An ECG that does not require follow-up is not a negative test, it is simply an ECG that is not suggestive of heart disease or defect.

In the world of "Do No Harm" the harm is done by not screening.