INTRODUCTION
Scientists have studied twins for many years to understand how genes and environments influence differences among individuals, spanning conditions such as cancer and mental health to characteristics such as intelligence and political beliefs.

Although the twin method is well-established, findings from twin studies are often controversial. Critics of twin research question the value of establishing that characteristics, such as health behaviours, have a strong genetic basis. A primary concern is that these types of findings will result in complacency or fatalism, effectively undermining motivation to change lifestyle. But there is very little evidence to support these fears.

Genetic influence on human characteristics is often misinterpreted. It is wrongly assumed that a behaviour that has strong genetic influence (highly heritable) must be biologically hardwired. However, genes are not destiny. Genes are often dependent on environmental exposure, such that genes can have a stronger effect, or no effect, depending on the environment.

For example, people with a genetic predisposition to lung cancer are unlikely to develop the disease unless they smoke. The same is true of behaviour. Behaviour is only elicited in response to environmental cues. Establishing that a behaviour has an important genetic basis does not imply that this behaviour cannot be changed through environmental means.

The influence of genes on behavior has been well established in the scientific community. To a large extent, who we are and how we behave is a result of our genetic makeup. While genes do not determine behavior, they play a huge role in what we do and why we do it.

Behavioral genetics studies heritability of behavioral traits, and it overlaps with genetics, psychology, and ethology (the scientific study of human and animal behavior). Genetics plays a large role in when and how learning, growing, and development occur. For example, although environment has an effect on the walking behavior of infants and toddlers, children are unable to walk at all before an age that is predetermined by their genome. However, while the genetic makeup of a child determines the age range for when he or she will begin walking, environmental influences determine how early or late within that range the event will actually occur.

The field was originally focused on testing whether genetic influences were important in human behavior (e.g., do genes influence human behavior). It has evolved to address more complex questions such as: how important are genetic and/or environmental influences on various human behavioral traits; to what extent do the same genetic and/or environmental influences impact the overlap between human behavioral traits; how do genetic and/or environmental influences on behavior change across development; and what environmental factors moderate the importance of genetic effects on human behavior (gene-environment interaction). ‪

Most recently, the field has moved into the area of statistical genetics, with many behavioral geneticists also involved in efforts to identify the specific genes involved in human behavior, and to understand how the effects associated with these genes changes across time, and in conjunction with the environment.

(Encyclopedia Britannica, Behavior Genetics by Robert Plomin, 4-11-2011)

GENETICS
Genetics is the study of heredity. Heredity is a biological process where a parent passes certain genes onto their children or offspring. Every child inherits genes from both of their biological parents and these genes in turn express specific traits. Some of these traits may be physical for example hair and eye color and skin color etc. On the other hand some genes may also carry the risk of certain diseases and disorders that may pass on from parents to their offspring.

Previously it had been difficult to link particular chromosome with psychiatric illness. However in a number of studies over years such an association has been made. E.g., schizophrenia, mood disorders, neuropsychiatric disorders, personality disorders, alcoholism, and personality traits.

Specific chromosomes have been associated with other disorders with behavior symptoms. Example:

 1.    Schizophrenia has been associated with markers on chromosome 1, 6, 7, 8, 13, 21 and 22.
 2.    Bipolar disorder and major depressive disorder have been associated with markers on chromosome            3, particularly 3p21.1.

TYPES OF STUDIES USED IN GENETIC RESEARCH

·       Twin studies 
a.  Used in genetic research to study the correlation between genetic inheritance and behaviour due to           the common genetics shared by twins.
b. Monozygotic twins (MZT) identical - share 100% genetic material.
c. Dizygotic twins (DZT) fraternal - share 50% genetic material. 
d. It is usually further explored, by studying the twins either separated or together to make a correlation        of their behaviour. 

·       Adoption studies 
a.  Allow researchers to study the comparison between genetic and environmental influence on behaviour.
b.  Adopted children share no genes with their adoptive parents but 50% of genes with their biological             parents. 

·       Family studies 
a.  Study behaviour between family members who have similar genetics to different degrees. 
 
·      Outline intelligence 
a.  Intelligence is an aspect of behaviour that has been studied in relation to genetics.
b.   It was questioned whether intelligence was attributed to genetic or environmental factors. Intelligence        difficult to define
c.  IQ tests have been developed by a French person called Binet to measure of intelligence and are used       in much psychological research. 

CONCLUSION
Identifying a chromosomal abnormality in a patient with mental disorder is of profound importance to the individual and their family. Diagnosis of a chromosomal abnormality can alter medical management and affect prognosis with respect to known associated conditions, and has important genetic counseling implications. In addition, receiving a genetic diagnosis may relieve parents of guilt or inappropriate blame for causing behavioral manifestations of the condition.


REFERENCES
1.     Boundless. “The Influence of Genes on Behavior.” Boundless Psychology. Boundless, 26 May. 2016.
2.     Dick, Danielle; Rose, Richard (2002). "Behavior Genetics: What's New? What's Next". Current                    Directions in Psychological Science (11): 70–74.
3.     Encyclopedia Britannica, Behavior Genetics by Robert Plomin, 4-11-2011
4.     http://theconversation.com/why-it-is-useful-to-understand-the-role-of-genetics-in-behaviour-67502 
5.     Wikipedia, Human Behavior Genetics

Want to know what treatments and technologies are going to substantially change patient care next year? To find out, a panel of nearly 100 clinicians and researchers at the Cleveland Clinic, Cleveland, OH, reviewed more than 150 novel medical innovations in order to rank the top ones for 2020.

The nominated technologies had to meet certain criteria. They must have significant clinical impact and offer significant patient benefit compared with current methods. They must be in clinical trials and be available on the market sometime in the coming year. And they must have significant human interest and human impact in their application or benefits.

After due consideration and debate, the panel decided on the top 10 up-and-coming technologies in medicine.

“Healthcare is ever changing and we anticipate that these innovations will significantly transform the medical field and improve care for patients at Cleveland Clinic and throughout the world,” said Michael Roizen, MD, Emeritus Chief Wellness Officer at Cleveland Clinic, who led the panel.

Without further ado, here are their top 10 medical innovations for 2020, in order of anticipated importance:

1. Dual-acting osteoporosis drug
Approved by the FDA in April, romosozumab is the first drug for osteoporosis that has a dual effect to both increase bone formation and decrease bone resorption. In a clinical trial published in the New England Journal of Medicine, women with postmenopausal osteoporosis who received romosozumab had a 50% reduced risk of spine fracture and a 38% reduced risk of hip fracture compared with those who took standard anti-resorption therapy (alendronate).

“Patients are getting back to daily activities without risk. The treatment is providing strength not only in bones, but in spirit,” according to comments by the Cleveland Clinic.

2. Expanded use of minimally invasive mitral valve surgery
Minimally invasive surgery for mitral valve repair was introduced in 2013. The procedure involves an innovative transcatheter device that was FDA approved to repair the mitral valve in individuals with primary mitral regurgitation (MR) who aren’t eligible for open heart surgery.

But, in March, the FDA broadened the device’s approval to also include patients with MR as a result of an enlarged left ventricle, known as secondary MR. These are patients in whom optimal medical therapy failed to relieve their symptoms.

Noted the Cleveland Clinic: “This expanded use of the minimally invasive method is bringing relief to more patients by removing some of the risk, fear, and inconvenience associated with cardiac surgery.”

3. First-ever treatment for transthyretin amyloid cardiomyopathy
Transthyretin amyloid cardiomyopathy is a progressive and potentially fatal disease in which amyloid fibrils, composed of misfolded transthyretin protein, deposit in the walls of the heart’s left ventricle. These deposits stiffen the muscle, which eventually leads to heart failure.

But a newly developed compound, tafamidis, binds to transthyretin to prevent misfolding of the deposited protein. In a high-profile clinical trial, patients on tafamidis had 30% lower all-cause mortality as well as a lower rate of cardiovascular-related hospitalizations compared with similar patients on placebo.

“Following Fast-Track and Breakthrough designations in 2017 and 2018, 2019 marked the FDA approval of tafamidis, the first-ever medication for treatment of this increasingly recognized condition,” the Cleveland Clinic stated.

4. Immunotherapy for peanut allergies
Peanut allergy can be a nightmare for children—and their parents. In September, an FDA expert panel recommended the approval of a first-of-its-kind oral immunotherapy treatment for peanut allergy in children—a capsule with a minuscule amount of pharmaceutical-grade peanut protein. The immunotherapy’s dose is increased over time while the child builds up a tolerance to peanuts. In a double-blind phase 3 clinical trial, more than 3 in 4 children (76.6%) reached a daily maintenance dose of 300 mg—the equivalent of one peanut.

“Though not a cure,” the Cleveland Clinic noted, “the breakthrough treatment lessens the worry of accidental exposure, easing the minds of parents who live in constant fear.”

5. Closed-loop spinal cord stimulation
Conventional spinal cord stimulation works by sending electric impulses along the spinal column through an implanted spinal cord stimulator, reducing the pain signals that reach the brain. However, each patient is prescribed a fixed dose of stimulation, which doesn’t take the individual's movement into account, limiting its effectiveness.

Now, researchers have developed closed-loop spinal cord stimulation, which gets feedback from the patient’s own spinal cord. The closed-loop system uses a stimulator that’s able to communicate in real time with spinal cord neurons and modulate the dose of stimulation accordingly. It’s the first such system to measure the spinal cord’s response to stimulation and adjust each pulse according to the patient’s activity.

“With this technology, patients are getting measurable pain relief, sleeping better, and taking less medication,” according to the Cleveland Clinic. “Pending approval, closed-loop stimulation could be a saving grace for chronic pain patients everywhere.”

6. Biologics in orthopedic repair
People who’ve torn their anterior cruciate ligament (ACL) have a 20% chance of re-tearing it again. Now, researchers hope for better long-term results using the patient’s own biologics—cells, blood components, growth factors, and other natural substances—to promote better healing and decrease inflammation in orthopedic injuries.

In conventional ACL repair, the torn ligament is replaced with autologous tissue. The new technique—known as bridge-enhanced ACL repair (BEAR)—uses a sponge injected with biologic factors in combination with the patient’s own blood. This acts as a scaffold to stimulate healing of the ACL, preserving the tissue instead of cutting it. A multicenter, randomized clinical trial using this procedure is now underway.

Other potential uses of biologics for orthopedic repair include its use in rotator cuff injuries and as an anti-infective coating for implant devices.

“Biologics hold the potential to provide every orthopedic patient a more natural, more effective, speedy recovery,” the Cleveland Clinic predicted.

7. Antibiotic envelope for preventing infection with cardiac implants
Cardiac implant devices such as pacemakers and defibrillators come with a risk of infection. But encasing these devices in an antibiotic “envelope”—a mesh sleeve embedded with antibiotics—ensures the slow delivery of 2 antibiotics, rifampin and minocycline, for 7 days after implantation. The week-long release of antibiotics minimizes the risk of infection.

“The absorbable envelope received FDA clearance in 2013, but healthcare professionals were awaiting results from the landmark worldwide randomized WRAP-IT [Worldwide Randomized Antibiotic EnveloPe Infection PrevenTion] trial,” according to the Cleveland Clinic. “The findings published in March show a 40% reduction in major infections making cardiac implantable device procedures safer for patients.”

8. Bempedoic acid for patients who can’t take statins
Statins cause muscle pain in approximately 5% to 10% of patients who take them. A new agent, bempedoic acid, provides an alternative approach to lowering LDL cholesterol while avoiding these side effects.

Like statins, bempedoic acid works by blocking a key enzyme used by the body to make cholesterol. But unlike statins, it cannot accumulate in muscle, reducing the likelihood of muscle pain.

“In clinical trials of the therapy, patients saw their LDL levels drop by an average of about [21%]. If approved by the FDA, bempedoic acid could be another addition to the arsenal of cholesterol-lowering treatments available to patients,” the Cleveland Clinic stated.

9. PARP inhibitors for ovarian cancer maintenance therapy
One of the most important advances in ovarian cancer treatment recently, poly-ADP ribose polymerase (PARP) inhibitors have improved progression-free survival in patients, and are now being approved by the FDA for first-line maintenance therapy in advanced stage disease.

Until now, maintenance therapy hasn't been widely explored in ovarian cancer. But in a landmark study published late last year, investigators showed a 70% reduction in the risk of disease progression or death at 3 years in participants using a PARP inhibitor approved for maintenance therapy.

The Cleveland Clinic predicted: “Several additional large-scale trials are underway, with PARP inhibitors set to make great strides in improving outcomes in cancer therapy.”

10. Diabetes drugs for heart failure with preserved ejection fraction
No treatment is yet available for heart failure with preserved ejection fraction (HFpEF). However, sodium glucose co-transporter 2 (SGLT2) inhibitors—currently used to lower blood glucose for the treatment of type 2 diabetes—are now being investigated for HFpEF.

Using SGLT2 inhibitors for this purpose became of interest when researchers reported that these drugs reduced the risk of cardiovascular death and heart failure hospitalization in a cohort of patients with type 2 diabetes. Individuals with heart failure and reduced ejection fraction without diabetes on SGLT2 inhibitors showed similar results. For patients with HFpEF, research is ongoing but promising.

“With an FDA decision anticipated in 2020, these drugs, among others, are introducing potential new treatment options for patients with this heart failure subtype,” the Cleveland Clinic noted.

Original Post by John Murphy, MDLinx