What is Medical Genetics?
In recent years, scientists have begun to unravel the complicated role that genes play in our overall health and longevity. This knowledge has given us unprecedented access to what might lie ahead for us medically. It allows us to redirect what might have been with preventive care and lifestyle changes. Medical genetics is a new area of healthcare that shows how genetics can play a role in the disease processes. Having all that information at your fingertips may sound like a no-brainer. But is it right for everyone?
What Does a Medical Genetics Evaluation Involve?
It can be challenging to picture what medical genetics entails. The term may conjure a ridiculous image of a double helix lying on a couch talking to a psychologist. But as David Kronn, MD, at WMCHealth explains, “A medical genetics evaluation is the process of discovering if you or your family are affected by or at higher risk for genetic disorders or conditions.”
If you opt for a medical genetic evaluation, you will meet with a genetic counselor specialized in medical genetics. They will assess your family history and help you decide if genetic testing would be beneficial. All medical genetics evaluations are reviewed by a medical geneticist, who is a physician specializing in the evaluation and management of patients with and at risk for medical genetic disorders. In cases where you or a family member is affected by a potential genetic disorder, you will also be seen by this physician.
In New York State, all genetic testing requires informed consent. One of the central roles of a medical genetics evaluation is to review the recommended genetic testing with a genetic counselor, including the risks and benefits of testing. Only then will you decide if testing is appropriate for you or your family, by giving signed consent.
Just because you meet with a genetic counselor does not mean you have to have genetic testing. They will help you understand your risk of an inherited condition and how best to adapt or address the implications of a genetic disease diagnosis.
When Might You Consider Medical Genetics Evaluation?
“There are many different reasons that you may want to consider genetic evaluation and testing,” says Dr. Kronn. “An evaluation can be done at any time or stage of life. You might just be curious about your general risk, but usually people are prompted by a life event.”
Reasons for a medical genetics evaluation may include:
You Want to Get Pregnant
While this might not be necessary for everyone, it can be extremely helpful for those who want to start a family and are having a hard time. “You may want to consider a medical genetics evaluation if you have had multiple miscarriages or a family history of certain known genetic conditions,” says Dr. Kronn. “Some may consider a medical genetic evaluation if they already have a child who has a congenital condition, inherited disorder, or developmental delay.”
You Are Pregnant
“If you are currently pregnant, your doctor may recommend a medical genetic evaluation if you have had an abnormal test result or if you have had an infection such as CMV while pregnant,” says Dr.Kronn. You also may have a more routine screening for genetic disorders such as cystic fibrosis or sickle cell disease.
Learn About Our Family Planning ServicesYour Newborn Has an Abnormal Newborn Screen
Every baby born in New York State has a newborn screen test sent on day two of life, this screens for over 50 disorders where early intervention can improve outcome for the patient. Patients born in the Lower Hudson Valley are referred to Westchester Medical Center, as we are a State Designated Referral Site for the New York State Newborn Screen. Patients will be evaluated for the disorder, and if testing is positive, treatment can be initiated.
Your Child Exhibits Signs of a Genetic Condition
Not all conditions can be known before birth. If your child is born with a congenital disability or later shows signs of developmental disabilities or problems with hearing or vision, your doctor may recommend a medical genetics evaluation. This can help establish if your child has a genetic condition and the likelihood that subsequent children would have it.
Learn About Our Pediatric ServicesA Close Relative Is Diagnosed with a Genetic Condition
“As an adult, medical genetics evaluation may be recommended if a close relative is diagnosed with a genetically linked condition such as Huntington’s Disease, breast, or ovarian cancer,” says Dr. Kronn. You may also seek an evaluation if you present with symptoms of a genetically linked condition.
What Does a Medical Genetics Evaluation Accomplish?
A medical genetics evaluation can give you peace of mind. It can let you know you’re not at increased risk or allow you to prepare and be a step ahead if you develop a condition later in life.
“While finding out if you have a genetic disorder or are at higher risk for developing certain cancers may be scary, the results can have positive impacts on your health and life,” says Dr. Kronn. Information about your genetic risk can help you make better-informed decisions about you and your family’s health. It may also lead to a more specific course of treatment based on the results of the genetic testing.
If you are at increased risk, you will know that you need to start certain screenings earlier than generally recommended. This could lead to an early diagnosis and an increased likelihood of a positive outcome.
If you or your child are diagnosed with a disorder that has a specific treatment, you and your doctor will discuss the risks and benefits. Patients initiated on treatment are then followed closely by our program to monitor the outcome and to make adjustments as necessary.
Is There a Downside to Medical Genetics Evaluation?
A medical genetic evaluation can have some negative outcomes, depending on the individual. For some, this type of information can lead to feelings of stress and anxiety that a fatal diagnosis is imminent. Dr. Kronn stresses that the testing is typically only one piece of the puzzle and isn’t a foregone conclusion. “A positive result in some instances may only indicate a higher risk of developing the condition,” he explains.
Genetics results can also lead to other feelings, such as guilt or anger that you may have increased your children’s risk of a health problem. Others may have feelings akin to survivor’s guilt if their test is negative while others in the family test positive. Depending on the family dynamic, it could lead to questions and answers that not everyone is looking for, such as adoptions or unknown paternities.
“A medical genetic evaluation can lead to many proactive health measures, but it’s not for everyone,” says Dr. Kronn. “It’s an option for those who feel they would benefit and be comforted by having more conclusive information. It’s a great tool to have available in your healthcare toolbox.”