A True Test of Time and Patients
Quest Diagnostics prides itself on "Leading the Way" as per their website. "For almost four decades, we have pioneered innovative tests and technologies. Our commitment to innovation keeps us on the leading edge." They go on to state that they "are the world’s leading provider of diagnostic testing, information and services that patients and doctors need to make better healthcare decisions. We perform medical tests that aid in the diagnosis or detection of diseases, measure the progress or recovery from a disease or confirm that an individual is free from disease. We have specialized expertise in cancer, cardiovascular diseases, infectious diseases, and neurology."
But, what happens when Quest Diagnostics gets it wrong?
Huntington's disease has ravaged our family since 2009. We are a large Italian family from Queens, New York. My parents had eight children, and five of them decided to create a family. In 2009, my father, second oldest brother, and I, received a diagnosis of Huntington's disease. In that timeframe, my niece decided to get tested, and the result was a diagnosis of Huntington's disease. Needless to say, her mother, my oldest sister, did not need to get tested.
Keeping track: Five of my family members had received a diagnosis of Huntington's disease as of 2009. For the sake of this article, it is necessary to mention that some of our extended family (five cousins) have also received a diagnosis of Huntington's disease.
We lost my father in August of 2012, and my brother John in July of 2016. It is important to underscore that our family had made the personal decision to seek medical attention and advice from our primary care physician here in Saint Cloud, Florida. Most of my family members visit the same PCP and have done so for many years. Our physician sat with each of us to discuss all concerns about Huntington's disease, before providing us with a prescription to have the genetic test done at Quest Diagnostics.
In 2016, my second oldest sister and her seventeen-year-old daughter decided to get tested. They followed the same process and visited our primary care physician in town. They each received proper guidance and pre-testing information. However, our doctor is fully aware of our history and experience with this disease. We are far from ignorant of Huntington's disease.
My sister and her daughter visited Quest Diagnostics here in Saint Cloud, and each of them went through the genetic testing process. In our experience, none of us had to wait more than two weeks for a result. I guess you can consider that ironic luck.
Days went by, and my sister and her daughter waited patiently to hear back from our PCP. Naturally, each of them worried, and time seemed to stand still. After three weeks, my sister became concerned and called our doctor. The doctor had not heard anything from Quest Diagnostics. After waiting two months, the stress was taking its toll on my sister, so she called Quest Diagnostics. She was not prepared to hear what a representative told her.
Quest Diagnostics destroyed their blood samples. Their reason - my sister's daughter was not eighteen years of age. She was considered a minor. Quest Diagnostics did not consider the fact that each of them received the support from their medical professional. Nor did they take into consideration that there was a consent form (parental permission and assent), signed by the family physician, provided at the time of testing.
Our primary care physician was quite alarmed about this outcome. My sister and niece were emotionally distraught and decided to wait for her eighteenth birthday to retest. Sadly, her eighteenth birthday was only a few months away. Moreover, there was no explanation as to why they had destroyed my sister's blood sample.
On December 20, 2017, I called the corporate headquarters (Secaucus, NJ) of Quest Diagnostics. I wanted Quest to provide me with their policy and procedures regarding testing minors. I spoke with a manager (Darion Aberdeen), who referred me to their Patient Advocacy department for further discussion. Not surprisingly, I had to leave a voice message.
I couldn't wait any longer, so I searched the internet for a direct phone number for Quest's Patient Advocacy Center. I found the number and called. I spoke with a representative (Jodi) who took the time to listen to the entire chain of events. I provided here with every detail she asked for (with the permission of my sister and niece). She asked me one vital question: "Was a consent form completed by the doctor and my sister?" I will get to the answer shortly.
Jodi helped me navigate through Quest's website to find the actual listing and information for the Huntington genetic test. According to Quest Diagnostics online verbiage:
"Waiver signed by the referring health care professional must accompany all specimens or be received in the molecular genetics lab (fax: 949-728-4874) within 4 days of the blood draw. If ordering facility is located in AK, AZ, DE, FL, GA, MA, MN, NV, NH, NJ, NM, NY, OR, SD or VT or test is performed in MA, a physician attestation of informed consent (PAIC) waiver is required and will meet the test specific waiver requirements. Waivers not received within 8 days from draw will result in test cancellation. Call 866-GENEINFO (866-436-3463) for a copy of the test specific and or PAIC waiver. For patients under the age of 18, please call (866-436-3463) before specimen collection.
Note to BUs: Do not reject specimen if the waiver is not received. Forward samples to SJC and fax the waiver to the referring physician with instructions that it must be completed and faxed back to SJC (to the number on the waiver) within 4 days of blood draw."
Now back to Jodi's question. "Was a consent form completed by the doctor and my sister?" As you might imagine, I already knew the answer to this question.
I informed Jodi that a consent form was undoubtedly completed. Furthermore, on the day of testing, my sister provided her ID, the consent form, and two prescriptions for the genetic test to the Quest Diagnostic Center in Saint Cloud, Florida. Our family physician also confirmed this; the genetic testing could not have taken place without the form, identification, and a prescription for the genetic test. Jodi agreed. The other question which fell on deaf ears: Why was my sister's blood sample destroyed?
Sadly, we have not received a valid reason for this mishap. I use that word very lightly. I will provide an update within this article if and when I receive a response from Quest Diagnostics. It is difficult enough for anyone living in a Huntington's family, but to have to have additional stress such as this is beyond comprehension. Let this be food for thought for all of my Huntington's families in the USA. There is NO law which restricts a parent from having their child test for Huntington's disease.
However, there are "Ethical and Policy Issues in Genetic Testing and Screening of Children" in place. They are not laws, but recommendations. In fact, they exist as a guide for the "appropriate" protocols and procedures for parents to follow. I truly understand the need and importance of these recommendations. For many in the Huntington's community, genetic counseling before testing is needed. Many of our families need a secure support network and the guidance of many medical professionals. Getting tested is not a black and white situation.
On the other side of that equation are families such as mine who have dealt with Huntington's for years. In our case, we did not need genetic counseling and found solace in our primary care physician. Each of us can agree that recommendations, protocols, and procedures are incredibly vital. But, what happens when a parent follows these protocols set by Quest Diagnostics and the American Academy of Pediatrics, yet the parent and child pay an emotional consequence when it fails?
When my niece turned eighteen years of age, she and my sister went for the genetic test. The diagnosis - positive for Huntington's disease. We continue to move forward as a family to broaden awareness of this disease. Our hope is that our experience with Quest Diagnostics will help others who plan to make a family choice to test their children. We have a very strong safety net in place, and a family bond that gets stronger each day. Nothing breaks a Valvano! We may fall, but we always get back on our feet!