Considerations in Genetic Testing : Living with "Rare"

 Living with "Rare"

A blog devoted to navigating and analyzing life with 
Rare and Complex Disorders.

Considerations in Genetic Testing

by RNE submissions on 11/04/17

By Joanna Mechlinski

Genetic testing is a type of medical test that can determine the presence, absence or changes in genes, chromosomes and proteins. To date, there are over 1,000 different genetic tests in use – including prenatal and newborn testing.

At first glance, being able to find out if a baby will be born with a certain illness or disability seems like a wonderful thing. No one will be blindsided; families will be prepared for all eventualities to the best of their ability. If available, the family may start treatment immediately in order to give the child the best prognosis.

Genetic testing may also indicate if a person is a carrier for a serious disease or condition – that is, if the person may not have any health issues themselves, but possibly risk having a child that will.

However, problems also lies within the knowing. Genetic testing in its current incarnation isn’t a precise thing. We cannot always determine, for example, the severity of the person’s illness , whether it will progress over the person’s lifetime – or if the person will even show any symptoms at all. It also gives potential parents the option to use in-vitro fertilization – cells can be taken from embryos grown in a petri dish and tested.

But how many parents might take the knowledge and decide not to proceed with the birth? Some might simply be frightened or overwhelmed by what they don’t know or understand; others may not want a child that isn’t “perfect.”

That, of course, leads to huge moral quandaries. Who among us doesn’t have some sort of challenge in life, whether it’s physical, emotional or otherwise? What’s more, who among us has the right to judge which challenges are “acceptable” and which are not? Who gets to decide if someone isn’t “worthy” of life? And in the case of the embryos, what happens to embryos which may be discarded? This leads to the often gray and often controversial issue of just when life begins. All of these scenarios lead to the proverbial “playing God”.

Like many things in life, genetic testing is full of pros and cons. It’s ultimately up to the individual – or couple – to decide whether this avenue is the right one for them.

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A lifelong Connecticut resident, Joanna Mechlinski is a former newspaper reporter who now works in education. She was diagnosed with lupus, fibromyalgia and polymyositis in her early twenties. In addition to helping spread rare and chronic illness awareness, Joanna is also passionate about animal advocacy, reading, writing, and road trips.

 Mary-Frances Garber is a licensed genetic counselor, providing supportive counseling for families in search of a diagnosis, a listening ear for those receiving a new diagnosis and decision-making counseling for individuals or couples facing choices regarding having another child . She also is available for bereavement counseling. Patients are seen in a private office setting in Needham, Massachusetts.
Listening, Reflecting, HealingSupportive Genetic Counseling 
Find more info here.
Meet our blog writers!
Jenna Anne
  I write to you as a wife and mother of 4 children. Three daughters and a medically complex son. I live in New England and have a love of fiber arts, music, and most importantly advocating for my children. My background is in Early Childhood Education and Music Education, I have no medical background aside from what I have had to learn on this medical journey. My writing is not statistic based, it’s not guidelines or resources but rather I bring a perspective from the human experience. Often in this world of medical complexity we focus specifically on the patient and the diagnosis and treatments, my writings offer the community a different perspective on how the day to day events are affected by medical interventions. The impact it has on siblings and family. The perseverance it takes to keep a wholesome family continuously adapting and thriving amidst all the challenges of medical complexity. My writings are often raw and unapologetic and speak to the human experience behind the policy, coding and diagnostics of modern medicine.  

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