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Diagnostic testing, precision medicine and what it means for patients
Precision medicine aims to customize health care by tailoring medications and treatments to each patient. An important step in being able to personalize treatments is diagnostic testing.
Mayo Clinic BioPharma Diagnostics collaborates with biopharmaceutical, diagnostic, and other biotech companies to enable precision medicine through advanced diagnostics. Diagnostic testing can help find the right answers for each individual patient.
"A laboratory test can either help in making a diagnosis for a disease, or it can help guide the clinician to the right diagnosis or to the right treatment," explains Dr. Alicia Algeciras-Schimnich, medical director of BioPharma Diagnostics.
Accurate and rapid diagnostic testing has many benefits, says Dr. Algeciras-Schimnich.
"The faster we reach the right diagnosis for a patient, the faster we get to the right treatment. It not only improves their outcome, but it has been shown that the overall cost of health care is also reduced by providing the right answers faster."
On the Mayo Clinic Q&A podcast, Dr. Algeciras-Schimnich discusses diagnostic testing, precision medicine and what it means for patients.
To practice safe social distancing during the COVID-19 pandemic, this interview was conducted using video conferencing. The sound and video quality are representative of the technology used. For the safety of its patients, staff and visitors, Mayo Clinic has strict masking policies in place. Anyone shown without a mask was recorded prior to COVID-19 or recorded in an area not designated for patient care, where social distancing and other safety protocols were followed.
For more information and all your COVID-19 coverage, go to the Mayo Clinic News Network and mayoclinic.org.
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I have been diagnosed with having an autoimmune disease. Despite two appointments with a rheumatologist, and a repeat of the blood test, I have not been told what kind of disease this is. They simply do not know and do not seem worried about it. As I am the one who has it, I am the only one worried about it. Is there anything I could or should do?
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1 ReactionThere are 2 approaches here - wait for a call from the doctor, or press for an answer. My personal choice would be to call the office that ordered the tests nd ask for specific answers. If they declined to specify, or to offer a consult, I would ask for a complete copy of my records and test results. Then take them to another doctor for a consultation.
In the meantime, I would try not to worry too much - most autoimmune disorders are chronic in nature and a short delay in beginning treatment does not quickly become a crisis.
What were the symptoms that led to tests being done?
Sue
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1 ReactionThat's the thing. I have no symptoms. It appeared on a blood test. When I asked about it I was told it was an autoimmune disease. That's when I was sent to a rheumatologist. He wanted the blood test repeated, along with a urine specimen. Still showed the same. But with no apparent symptoms they don't know what it is - only what it is not. Where I live, we do not have a lot of choice for doctors. I am a patient at Loma Linda, which advertises itself as being wonderful. It is not, but I would have to be closer to Los Angeles to have the choice to see other doctors. Anyway I thank you for your advice.
No wonder you are concerned. They have apparently seen some markers in your blood that indicate "some abnormality" but I would think it is most likely not a life-threatening situation or they would be pursuing a better diagnosis. Not being a doctor or hematologist, but only a medical consumer myself, I cannot imagine doing anything else.
What did they tell you about "what it is not"? If they did not tell me what their tests ruled out, I would certainly look back at the paperwork from the visit, or call and ask for an explanation.
Have you asked for a better explanation, either from your rheumatologist or primary providr?
Sue
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2 ReactionsYes, I have asked. It is not lupus. That was the first thing they thought about. Explanations are vague. I was told that whatever it is it is "mild," whatever that means. The original rheumatologist I saw is no longer at Loma Linda. I see my primary later this month. I have other issues that I am going to push him on. With no symptoms I would probably ignore it but not with Covid raging around the world.
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1 ReactionMarilyn, if you would like to seek a second opinion at Mayo Clinic, here is the link to submit an appointment request. http://mayocl.in/1mtmR63
You may inquire about the possibility of a virtual visit. Read more here: https://www.mayoclinic.org/covid-19
It does sound intriguing. However closest Mayo Clinic to me is Phoenix. I would have to fly. I have just transitioned from a walker to walking with a cane. I don't think I could do this alone. As for a virtual visit I do not have the technical knowledge to do this. After 7 weeks of physical therapy, I am noticing quite an improvement. I am also starting therapy for my grief over losing my husband. These two hits have left me in a bad place. So now one is improving and hopefully the second one will as well.
I understand, Marilyn. FYI, virtual visits can simply be phone visits. Just wanted to let you know.
I’m delighted to hear that physical therapy is making quite a difference. It takes discipline to stick with physical therapy. Sometimes the exercises they give you to do at home seem so simple that they can’t possibly help, but sticking to it is key. I had frozen shoulder once and just hated not being able to have full range of motion of my arm. I was bound and determined to get better. It took almost a year of diligently doing regular PT exercises, but I did it. Are you disciplined by nature or is it a slog for you?
It is definitely a slog. Because I am alone, I have found that I am neglecting everything. Papers are strewn about, dishes are just left, etc. There is no one to care. I don't like feeling this way but I can't seem to change. I am seeing the therapist today for the second time. If there is an opportunity I will ask him about this lassitude towards everything and what, if anything, I should or could do.