Appropriate for healthy individuals wanting to understand their genetic predisposition to conditions such as diabetes, heart disease, and other multifactorial conditions.

Family history usually includes older adults with Type 2 Diabetes, hypertension, dyslipidemia, sporadic (one-off) cases of cancer, etc. The purpose of Genomepatri Genetic Counseling is to help individuals understand what their DNA says about their chances of developing multifactorial conditions in the future.

• Provide education about symptoms of at-risk conditions for the purpose of being proactive through awareness.
• Put together a prevention-focused plan that includes diet and lifestyle-based strategies for risk reduction.
• Recommend standard of care tests for targeted monitoring in order to facilitate life-saving early intervention and timely treatment.

Appropriate for healthy individuals wanting to understand their genetic predisposition to conditions such as diabetes, heart disease, and other multifactorial conditions.

Prenatal genetic counseling is available to couples who are pregnant, to discuss risks to the pregnancy as well as testing options. Common reasons to seek prenatal genetic counseling include:

• A woman who is (or will be) 35 years or older at delivery (singleton pregnancy), or 33 years or older at delivery (twin gestation).
• A man who is (or will be) 40 years or older at delivery of his child.
• Both partners are blood relatives, or from the same community.
• An “abnormal” first or second trimester maternal serum and/or nuchal translucency screening test.
• A fetal anomaly or multiple anomalies identified on ultrasound.
• Prior to CV, amniocentesis or NIPT (non-invasive prenatal screening test).
• Personal or family history of pregnancy complications known to be associated with genetic factors such as acute fatty liver of pregnancy.
• A positive carrier screening test for a genetic condition such as thalassemia, sickle cell anemia, cystic fibrosis, Tay-Sachs, etc.
• Either member of the couple with personal or family history of a known genetic condition, chromosomal abnormality (such as translocation, marker chromosome, mosaicism, etc.), cleft lip/palate, mental retardation, autism, hearing/vision loss, etc.

Preconception genetic counseling is available to couples who are planning a pregnancy, to discuss risks to a future pregnancy as well as available testing options. Common reasons to seek preconception genetic counseling are:

• A woman who is (or will be) 35 years or older at delivery (singleton pregnancy), or 33 years or older at delivery (twin gestation).
• A man who is (or will be) 40 years or older at delivery of his child.
• Both partners are blood relatives, or from the same community, to discuss carrier screening.
• Personal or family history of pregnancy complications known to be associated with genetic factors such as acute fatty liver of pregnancy.
• A positive carrier screening test for a genetic condition such as thalassemia, sickle cell anemia, cystic fibrosis, Tay-Sachs, etc.
• Either member of the couple with personal or family history of a known genetic condition, chromosomal abnormality (such as translocation, marker chromosome, mosaicism, etc.), cleft lip/palate, mental retardation, autism, hearing/vision loss, etc.

A referral to genetics/genetic counseling is extremely crucial for newborns or children suspected to have a genetic condition. A genetic condition may be suspected because of clinical symptoms, birth defects, or developmental delays. The aim of genetic counseling in pediatrics is dual:

• To establish a genetic diagnosis that will inform overall prognosis, treatment, and/or health care management.
• To provide information about recurrence risks and testing options to the parents for a future pregnancy.
• A single major anomaly or multiple minor anomalies, Dysmorphic features, especially if accompanied by developmental delays or mental retardation.
• Known or suspected metabolic disorder (intractable seizures, hepatosplenomegaly, acidosis, cyclic vomiting, persistent hypoglycemia, developmental regression, and unusual body odor).
• A recognized or suspected genetic syndrome including a chromosomal or single gene disorder.
• Progressive muscle weakness that might be associated with a genetic disorder such as a form of muscular dystrophy, spinal muscular atrophy, or myotonic dystrophy.
• Unexplained mental retardation or global developmental disorder , Autism or pervasive developmental disorder.

Personal or family history of:

• A cancer or cancers known to be associated with specific genes or mutations such as breast, ovarian, and colorectal in the context of a compelling family history; young age at onset, bilateral lesions, and familial clustering of related tumors.
• Cardiovascular problems known to be associated with genetic factors such as cardiomyopathy, long QT, hyperlipidemia, etc.
• Hematologic condition associated with excessive bleeding or excessive clotting (as evidenced by recurrent deep vein thrombosis or pulmonary emboli).
• Progressive neurologic condition known to be genetically determined such as a peripheral neuropathy, unexplained myopathy, progressive ataxia, early onset dementia, and a familial movement disorder.
• Visual loss known to be associated with genetic factors such as retinitis pigmentosa, early-onset macular degeneration, and cataracts.
• Early onset hearing loss.
• Mental illness such as schizophrenia, depression, bipolar disorder, etc.
• A close relative with sudden, unexplained death, particularly at a young age.
• Recognized genetic disorder including a chromosomal or single gene disorder.