Genome sequencing and advancing technology are shifting the perspective on healthcare, bringing tailor-made treatment further within reach. Advances to date include:
Identifying genes to prevent disease before it starts
In April 2016, scientists from the Scripps Translational Science Institute (STSI) found that in a group of over 1,400 healthy 80-105-year-olds, there was a "higher-than-normal presence of genetic variants offering protection from cognitive decline."
In particular, they found an absence of the coding variant for COL25A1, a gene that has been associated with the development of Alzheimer's disease.
Gene-editing techniques, such as "CRISPR," that modify DNA by "snipping" it, could prevent the onset of age-related diseases such as Alzheimer's in later years.
Women with a family history of breast cancer can undergo screening for BRCA1 and BRCA2 mutations to decide whether to take preventive action, such as a mastectomy, to minimize the risk of developing breast or ovarian cancer in future.
Recent research has suggested that women with the BRCA1 mutation should consider having children earlier, because the fault may affect the number of eggs in the ovaries.
Jen Trowbridge puts it this way: "Conventional medicine continues to treat the symptoms, but genetic scientists are now working to get right to the roots of diseases, the 'birth of a cancer,' starting from cell one."
Personalized medical devices
New imaging technology means that assessments of a patient's condition and needs can be ever more precise.
The data gathered can lead to tailor-made devices, and even regenerative medicine.
One example is the personalized tinnitus masker, with custom-tailored audio signals that can be configured to meet the needs of the individual patient.
Mobile health (mHealth) solutions include interconnected, wearable medical devices that feed back to the doctor a person's heart rhythms and other vital data, enabling remote monitoring, and any appropriate tweaking of treatment.
Replacement body parts
3-D printing and regenerative medicine have already provided patients with replacement body parts, including bone and a windpipe.
A CT scan assesses patient needs, computer-aided design plans the structure, and 3-D printing creates the final product. A device that is implanted surgically can then dissolve over time, as the body naturally replaces it with human tissue.
Researchers in the U.K. recently created the prototype of a 3-D-printed bone scaffold. The device would allow tissue to grow around it and new human bone to develop, as the artificial bone dissolves.
The device would match the patient's exact size and shape, and its porous nature would allow blood flow and cell growth to occur.
In 2013, physicians at the University of Michigan and Akron Children's Hospital created a bioresorbable airway splint to treat a critically ill infant. The child's airway walls were so weak that breathing or coughing could cause them to collapse. The device provided a placeholder for cells to grow naturally around it, as the body healed itself.
An FDA report describes this as "a glimpse into a future where truly individualized, anatomically specific devices may become a standard part of patient care."
Personalizing drug therapy for depression
Research suggests that around 50 percent of patients with depression do not respond to first-line antidepressants. What can explain this, and how can it be solved?
Current treatment is often a case of trial and error. A patient may take one medication after another, often for 12 weeks or more each time, while symptoms remain the same, or worsen.
A team from King's College London in the United Kingdom recently announced a blood test that can predict with accuracy and reliability whether an individual patient will respond to common antidepressants.
This, they say, "could herald a new era of personalized treatment for patients with depression."
High levels of blood inflammation have been linked to a lower response to antidepressants, so the team designed a test to distinguish levels of blood inflammation.
It evaluates the levels of two biomarkers: macrophage migration inhibitory factor (MIF) and interleukin (IL)-1β.
Results showed that none of the patients with levels of MIF and IL-1β above a certain threshold responded to conventional antidepressants, while with inflammation levels below this threshold did tend to respond. The findings indicate that patients with higher levels of inflammation should use a combination of antidepressants from the early stages to stop their condition from getting worse.
The two biomarkers affect a number of brain mechanisms involved in depression, including the birth of new brain cells, connections between them, and the death of brain cells as a result of oxidative stress, related to the processing of free radicals.
Depression can result when chemical signaling is disrupted, and the function of the brain's protective mechanisms is reduced.
Research suggests that around 50 percent of patients with depression do not respond to first-line antidepressants. What can explain this, and how can it be solved?
Current treatment is often a case of trial and error. A patient may take one medication after another, often for 12 weeks or more each time, while symptoms remain the same, or worsen.
A team from King's College London in the United Kingdom recently announced a blood test that can predict with accuracy and reliability whether an individual patient will respond to common antidepressants.
This, they say, "could herald a new era of personalized treatment for patients with depression."
High levels of blood inflammation have been linked to a lower response to antidepressants, so the team designed a test to distinguish levels of blood inflammation.
It evaluates the levels of two biomarkers: macrophage migration inhibitory factor (MIF) and interleukin (IL)-1β.
Depression can result when chemical signaling is disrupted, and the function of the brain's protective mechanisms is reduced.
"The identification of biomarkers that predict treatment response is crucial in reducing the social and economic burden of depression, and improving quality of life of patients."Getting the right medication from the start would enhance the well-being of patients, and it would also save on healthcare costs, in terms of time and money.
Prof. Carmine Pariante, King's College London
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