History of genetic testing? How are genetic diseases diagnosed?

Contributed by: Anjali Dhara

What is family history/pedigree analysis?

Family history or pedigree analysis is an important record of health conditions/inherited diseases of an individual and his close relatives. A complete family history record includes health information for three generations of relatives. These three generations include:

  • the children
  • brothers and sisters
  • parents
  • Grandparents
  • Aunts and uncles
  • nieces and nephews
  • cousin

Families have a similar genetic background and often have similar environmental and lifestyle behaviors. Together, these factors give clues to health conditions that can run in families. Genetic testing provides complete information about a family’s history and causes of ongoing health conditions and the risk of acquiring new ones.

By identifying patterns or health disorders in relatives, expert healthcare professionals can easily determine whether these health conditions persist across generations, simply by looking at genetic testing reports where multiple genes have been identified and characterized to find genetic predisposition. Health abnormalities and diseases.

Family history can identify individuals at higher-than-usual risk for many common lifestyle diseases or disorders, such as high blood pressure, heart disease, stroke, type 2 diabetes, and certain cancers. These disorders can easily be influenced by a combination of genetic factors, lifestyle changes and environmental behaviors.

In addition to this, family history can also tell about rare health conditions that are often caused by gene mutations, such as cystic fibrosis and sickle cell anemia.

Questions asked by doctors studying a family history:

Here is a list of questions frequently asked by healthcare professionals before genetic testing or predicting health conditions. These include:

  1. how old are you
  2. Do you or your family members/relatives have any long-term mild or chronic health disorders?
  3. How old were they when they were diagnosed?
  4. Was their illness under control?
  5. How are they treated?
  6. Where did they come from/where did they come from?
  7. Did your late relatives have health problems and what were those problems?
  8. How old were they when they died?
  9. What was the cause of their death?

Answering all these questions helps healthcare professionals:

  • Assess health risks based on your family history and other environmental factors.
  • Recommend healthy diet and lifestyle changes to prevent or treat disease.
  • Suggest health screening tests for early diagnosis.

Have you uncovered your family history?

Being aware of family health history is an important aspect that plays an important role in adopting a lifelong wellness plan. It may be a possibility that none of your family or relatives have any past health history or genetic disorders, but you may still be at risk of developing health disorders. This is due to the following reasons:

  • Food and nutrition
  • lifestyle behavior
  • Personal medical history
  • Other environmental factors
  • Being unaware of a family member’s health history
  • They may have family members who died young before developing chronic or severe health conditions such as heart disease, diabetes, cancer and stroke.

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