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Chapter 10: When does life begin and when does childhood begin?

Native American family faces showing genetic similarities in a multi-generational portrait with a connection theme showcasing the family heritage concept and cultural lineage bonds

Learning Objectives
  • 10.1 Discuss family history as a predictor of disease.
  • 10.2 Identify appropriate uses for DNA testing, and explain how such tests might lead to genetic discrimination.
  • 10.3 Define genetic engineering, and explain why cloning and stem cell research are controversial issues.
  • 10.4 Explain three possible remedies for couples experiencing infertility problems.
  • 10.5 List those laws affecting health care that pertain especially to children’s rights.

 

Family History as a Heredity Predictor

Family History as a Heredity Predictor is a powerful and accessible tool used in healthcare to assess an individual’s risk for developing inherited diseases or conditions. It helps identify patterns of genetic susceptibility across generations and guides preventive care, screening, and early intervention.

What Is Family History in Healthcare?

Family history refers to the collection of health information about an individual’s relatives, typically spanning at least three generations:

  • First-degree relatives (parents, siblings, children)
  • Second-degree (grandparents, aunts/uncles, nieces/nephews)
  • Third-degree (cousins, great-grandparents)

Why It’s Important

Benefit Impact
Predicts Genetic Risk Identifies hereditary conditions (e.g., cancer, heart disease, diabetes)
Guides Screening Tailors screening intervals (e.g., early colonoscopy if family history of CRC)
Informs Lifestyle Counseling Encourages behavior modification based on inherited risks
Supports Genetic Testing Helps determine if further genetic counseling or testing is warranted

Conditions Commonly Linked to Family History

Condition Type Examples
Cardiovascular Hypertension, coronary artery disease, stroke
Cancer Breast, ovarian, colorectal, prostate
Endocrine Type 2 diabetes, thyroid disorders
Neurological Alzheimer’s, Parkinson’s, epilepsy
Psychiatric Depression, bipolar disorder, and schizophrenia
Autoimmune Lupus, rheumatoid arthritis, multiple sclerosis

Limitations

  • Family history is not always complete or accurate.
  • Doesn’t account for de novo mutations.
  • Doesn’t isolate environmental vs. genetic causes.
  • Some conditions are polygenic or multifactorial.

Best Practices in Clinical Use

  • Use standardized tools like family history questionnaires or pedigrees.
  • Reassess family history periodically, especially if new diagnoses emerge.
  • Combine with lifestyle, environmental, and ethnic background factors.
  • Refer to genetic counseling for high-risk individuals.

Genetics, DNA, and Genes

Genetics is the branch of biology that studies genes, heredity, and variation in living organisms. In healthcare, genetics is essential for understanding how traits and diseases are passed from one generation to the next and for developing personalized medicine, genetic testing, and risk assessments.

Core Concepts in Genetics

Concept Description
Gene A segment of DNA that codes for a specific protein
DNA (Deoxyribonucleic Acid) The molecule that carries genetic information
Chromosome A structure of DNA containing many genes; humans have 23 pairs
Allele A variant form of a gene (dominant or recessive)
Genotype The genetic makeup of an individual
Phenotype The observable traits (e.g., eye color, disease presence)
Mutation A change in a DNA sequence that may lead to disease or variation
Homozygous / Heterozygous Having two identical / different alleles for a gene

Branches of Genetics

Field Focus
Mendelian Genetics Study of single-gene (dominant/recessive) inheritance
Molecular Genetics DNA structure, gene expression, and mutation analysis
Population Genetics Gene frequency and evolution in populations
Clinical Genetics Diagnosis and management of hereditary disorders
Genomics Study of the entire genome and its interactions

Genetics in Healthcare

Application Example
Genetic Testing BRCA gene testing for breast cancer risk
Carrier Screening For cystic fibrosis or Tay-Sachs disease
Pharmacogenomics Tailoring drug treatments based on genetic profiles
Prenatal Screening Detecting chromosomal abnormalities (e.g., Down syndrome)
Gene Therapy Correcting defective genes in conditions like SCID

Ethical & Legal Considerations

Concern Details
Genetic Privacy Protected under laws like HIPAA and GINA
Informed Consent Required before genetic testing
Discrimination Risk GINA prohibits use of genetic info in health insurance and employment
Incidental Findings Handling of unexpected results in genomic testing

DNA (Deoxyribonucleic Acid)

DNA is the fundamental molecule that carries the genetic instructions for the development, functioning, growth, and reproduction of all known living organisms and many viruses.

What Is DNA?

DNA is a double-stranded helix composed of nucleotides, each containing a phosphate group, a sugar (deoxyribose), and a nitrogenous base (A, T, C, G).

DNA Functions

Function Description
Genetic Storage Stores hereditary information in genes
Replication Copies itself before cell division
Protein Synthesis Provides the code (via mRNA) for building proteins (transcription/translation)
Mutation Source Changes in DNA can cause genetic variation or disease

Organization in Cells

  • Chromosomes: DNA is packaged into chromosomes (humans have 46 total: 23 pairs).
  • Genes: Segments of DNA that code for proteins.
  • Genome: The complete set of DNA in an organism.

DNA in Medicine & Research

Application Example
Genetic Testing Identifying inherited disorders (e.g., Huntington’s disease)
Forensics DNA fingerprinting for identity verification
Personalized Medicine Drug therapies tailored to genetic profiles
Gene Therapy Treating diseases by modifying DNA sequences
Ancestry & Traits Consumer DNA tests (e.g., 23andMe, AncestryDNA)

Legal & Ethical Issues

  • DNA privacy (protected by HIPAA, GINA).
  • Consent before testing or storage.
  • Potential misuse (e.g., discrimination, unauthorized access).

Genes

A gene is a segment of DNA that contains the instructions for making a specific protein or performing a regulatory function in the body.

Key Facts About Genes

Feature Description
Location Found on chromosomes within the nucleus of cells
Made of DNA nucleotides (adenine, thymine, cytosine, guanine)
Function Carries the genetic code used to produce proteins or regulate cell processes
Units of Heredity Passed from parents to offspring, determining traits (e.g., eye color, blood type)
Variation Small changes (mutations) in genes can lead to inherited diseases or traits

Types of Genes

Type Role
Structural Code for proteins that build body structures
Regulatory Control gene expression (when, where, how much)
Housekeeping Maintain basic cellular functions

Genes vs. Genome: A gene is one instruction. A genome is the complete set of instructions (all genes) in an organism.

The Human Genome Project (HGP)

Overview

Feature Description
Start–End 1990–2003
Led by U.S. National Institutes of Health (NIH) and international partners
Goal Identify all the genes (~20,000–25,000) in human DNA and map their sequences
Completion Officially declared complete in April 2003, ahead of schedule

Major Achievements

  • Sequenced 3.2 billion base pairs of the human genome.
  • Identified all human genes and their locations.
  • Provided open access to all genetic data.
  • Advanced understanding of genetic diseases and variation.
  • Stimulated the development of genomics and personalized medicine.

Why It Matters

Impact Area Contribution
Medicine Improved diagnosis, prevention, and treatment of genetic diseases
Research Enabled gene function studies and gene therapy development
Biotechnology Spurred growth in genetic engineering and pharma innovation
Forensics & Ancestry Revolutionized identity testing and genealogical tracing

Ethical Considerations

  • Creation of ELSI programs addressing genetic privacy, potential discrimination, informed consent, and ownership of genetic data.

DNA Testing in Healthcare

Female scientist working with computer in medical science lab. Biotechnology team developing drugs, gene therapy interface analysis. Medical research, science tech and innovation in clinic.
A female scientist is working with a computer in a medical science lab.

What Is DNA Testing?

DNA testing, also known as genetic testing, involves analyzing a person’s DNA to identify mutations or variants, confirm or rule out suspected genetic conditions, and assess the risk of developing or passing on diseases.

Types of DNA Testing

Type Purpose
Diagnostic Testing Confirms a suspected genetic disorder (e.g., cystic fibrosis)
Predictive/Presymptomatic Identifies risk for conditions before symptoms appear (e.g., Huntington’s disease)
Carrier Testing Detects if a person carries a gene for a recessive disorder (e.g., Tay-Sachs)
Prenatal Testing Detects genetic abnormalities in a fetus (e.g., Down syndrome)
Newborn Screening Screens infants for genetic/metabolic disorders (e.g., PKU, hypothyroidism)
Pharmacogenomics Tailors medications based on genetic variations
Ancestry/Consumer Testing Non-clinical tests for heritage and traits

Benefits in Healthcare

Area Impact
Disease Prevention Enables early lifestyle changes or surveillance
Treatment Personalization Guides drug choice and dosing
Reproductive Planning Helps prospective parents understand genetic risks
Early Diagnosis Reduces delays in identifying rare diseases

Legal & Ethical Considerations

Issue Protection / Regulation
Privacy HIPAA protects genetic information in medical records
Discrimination GINA prohibits misuse by insurers/employers
Informed Consent Required before testing, especially for predictive or prenatal tests
Psychological Impact Must consider the emotional effects of receiving genetic results

Genetic Diseases and Genetic Counseling

Types of Genetic Diseases

Type Description Examples
Single-Gene (Mendelian) Caused by mutations in a single gene; inherited in dominant or recessive patterns Cystic fibrosis, Sickle cell anemia, Huntington’s disease
Chromosomal Caused by changes in the number or structure of chromosomes Down syndrome, Turner syndrome
Multifactorial A combination of genetic and environmental factors Heart disease, Diabetes, Cancer
Mitochondrial Mutations in mitochondrial DNA, inherited from the mother Leber’s hereditary optic neuropathy

Diagnosis & Impact

  • Diagnosis may include family history analysis, DNA/genetic testing, chromosomal karyotyping, newborn screening, and biochemical testing.
  • Symptoms and impact vary widely; may affect growth, development, cognition, organ function, or immune response.
  • Management includes early diagnosis, carrier screening, genetic counseling, and privacy protections.

Genetic Counselors

A Genetic Counselor specializes in assessing genetic risk, interpreting DNA test results, and guiding patients and families through decisions about inherited conditions.

Role Description
Risk Assessment Reviews family/medical history to evaluate inherited disease risk
Test Interpretation Explains the meaning and implications of genetic test results
Education & Counseling Helps patients understand inheritance patterns, options, and outcomes
Support & Ethics Provides emotional support and ensures informed, ethical decisions

Training & Certification

Requirement Details
Education Master’s degree in Genetic Counseling
Certification Board-certified by the American Board of Genetic Counseling (ABGC)
Licensure Required in some U.S. states (varies by jurisdiction)

Genetic Discrimination and GINA

Genetic Discrimination

Genetic Discrimination occurs when individuals are treated unfairly based on their genetic information, such as a predisposition to certain diseases, even if they do not currently show symptoms.

Sources of Genetic Information Examples
DNA test results BRCA mutation
Family health history Multiple relatives with colon cancer
Research participation Genomic study data
Prenatal/newborn outcomes Screening results

GINA (Genetic Information Nondiscrimination Act)

Purpose

To protect individuals from genetic discrimination in health insurance and employment, and encourage beneficial genetic testing.

Key Protections

Area What GINA Prohibits
Health Insurance Denying coverage, changing premiums, and requesting genetic information
Employment Hiring/firing decisions, job assignments, promotions based on genetic data
Medical Privacy Collecting genetic info without consent

What GINA Does Not Cover

Excluded Area Explanation
Life/Long-Term Care/Disability Insurance Not covered by GINA
Military Personnel Does not apply to U.S. Armed Forces
Manifested Conditions Once the disease develops, other laws (e.g., ADA) may apply
Small Employers Employers with fewer than 15 employees are not covered

Why It Matters

Concern Consequence
Fear of Testing People may avoid beneficial genetic testing
Employment Bias Workers may be passed over due to perceived future health costs
Insurance Denial Individuals may be denied fair access to coverage
Family Impact Discrimination can affect relatives who share genetic traits

Genetic Engineering, Cloning, and Gene Therapy

Genetic Engineering

Genetic Engineering is the direct manipulation of an organism’s DNA using biotechnology to alter, add, or remove specific genes for medical, agricultural, industrial, or research purposes.

Common Methods

Method Description
Recombinant DNA Combining DNA from different sources into a new sequence
CRISPR-Cas9 Precise and efficient gene-editing tool
Gene Therapy Inserting functional genes to treat disease
RNA Interference Silencing specific genes to reduce harmful protein production

Applications and Concerns

Field Example Use
Medicine Gene therapy for cystic fibrosis, cancer immunotherapy, vaccines
Agriculture GMO crops resistant to pests or drought
Industry Engineering bacteria to produce insulin
Research Model organisms to study disease
  • Ethical & Safety Concerns: Germline editing, informed consent, off-target effects, ecological impacts, and varied regulatory oversight.

Cloning

Cloning creates exact genetic copies at the gene, cell, or organism level. It can occur naturally (identical twins) or be induced in a laboratory.

Types of Cloning

Type Description Example
Gene Cloning Making copies of specific genes or DNA segments Producing insulin from cloned DNA
Reproductive Cloning Creating a full organism with the same DNA as another Dolly the sheep (1996)
Therapeutic Cloning Creating cloned embryos to harvest stem cells Potential treatments for degenerative diseases

How Cloning Works (SCNT)

  1. DNA extraction from donor cell.
  2. Enucleated egg prepared.
  3. Nuclear transfer inserts donor DNA.
  4. Stimulation triggers cell division.
  5. Implantation (reproductive) or lab culture (therapeutic).

Ethical & Legal Issues

  • Human cloning bans, animal welfare concerns, embryo use, and differing national regulations.

Gene Cloning (Technique)

  1. DNA extraction and gene isolation.
  2. Insertion into a plasmid with restriction enzymes.
  3. Transformation into host cells (e.g., E. coli).
  4. Selection and replication.

Applications: Insulin production, vaccines, gene function studies, crop engineering.

Therapeutic vs. Reproductive Cloning

Feature Therapeutic Cloning Reproductive Cloning
Purpose Medical treatment (stem cells) Create a full organism
Embryo Use Destroyed at stem cell extraction Implanted in the uterus
Outcome Cells, tissues, or organs Living clone

Gene Therapy

Gene Therapy introduces, alters, or removes genetic material in a person’s cells to correct a genetic problem.

Type Description Example Use
Somatic Alters genes in non-reproductive cells Hemophilia, cystic fibrosis
Germline Alters genes in sperm/eggs (banned in humans) Theoretical
In Vivo Delivered inside the body Eye injection for retinal disease
Ex Vivo Cells modified outside then reintroduced CAR-T therapy
  • Delivery: Viral vectors, liposomes, nanoparticles, direct DNA.
  • Concerns: Long-term effects, off-target mutations, access and equity, and germline editing bans.

Conception and the Beginning of Life

Biological Definition of Conception

Conception is the moment when a sperm cell fertilizes an egg cell, resulting in the formation of a zygote with a complete set of human DNA.

Stage Description
Fertilization Sperm and egg unite in the fallopian tube
Zygote A one-cell embryo containing DNA from both parents
Cleavage Divisions form morula then blastocyst
Implantation Blastocyst attaches to uterine wall (~5–7 days after fertilization)

Scientific, Philosophical & Legal Perspectives

  • Genetic individuality begins at fertilization; human development begins as a zygote.
  • Perspectives vary: religious traditions, bioethics frameworks, and U.S. law (personhood generally begins at birth).

Stages of Prenatal Development

Stage Time Frame Key Features
Zygote 0–1 week Fertilized egg begins division
Embryo 2–8 weeks Organ systems begin forming
Fetus 9 weeks to birth Growth and development of body systems

Infertility and Surrogacy

Infertility

Infertility is the inability to conceive after 12 months of regular, unprotected sexual intercourse (or 6 months for women over 35). It affects both men and women.

Types and Causes

Type Description
Primary No prior pregnancies
Secondary Difficulty conceiving after a previous pregnancy
Male/Female Factors Sperm issues, ovulation disorders, tubal/uterine issues, age-related decline

Diagnosis & Treatment

Evaluation Examples
Female Hormone tests, ovulation tracking, ultrasound/HSG, laparoscopy
Male Semen analysis, hormone tests, physical exam, genetic testing
Treatment Type Examples
Medications Clomiphene, Letrozole, hormone therapy
Assisted Reproduction IUI, IVF
Surgery Correct blockages or remove fibroids
Lifestyle Diet, weight, smoking/alcohol cessation
Donor/Surrogacy Donor eggs/sperm; gestational carriers

Surrogacy

Surrogacy is an arrangement in which a woman carries and delivers a baby for another individual or couple.

Type Description
Traditional Surrogate uses her own egg; biologically related to the child (rare today)
Gestational Embryo created from intended parents’/donors’ gametes; surrogate has no genetic link

Who Uses Surrogacy?

  • Women with medical conditions preventing safe pregnancy, same-sex male couples, individuals with recurrent pregnancy loss or infertility, single intended parents.

Medical Process (Gestational)

  1. Fertility treatments to retrieve eggs.
  2. IVF to create embryos.
  3. Embryo transfer into the surrogate’s uterus.
  4. Pregnancy monitoring and delivery.

Legal & Ethical Considerations

Topic Description
Legal Contracts Parental rights, compensation, custody, responsibilities
Surrogacy Laws Vary widely by state/country
Compensation Altruistic vs. commercial arrangements
Ethical Concerns Exploitation, autonomy, rights of surrogate and child

U.S. and International Surrogacy Laws (Summary)

  • U.S.: Laws vary by state; some fully support gestational surrogacy with enforceable contracts and pre-birth orders; others restrict or have no explicit framework.
  • International: Canada/UK/Australia allow altruistic arrangements; Ukraine/Georgia permit commercial gestational surrogacy; several European countries ban all forms.

Adoption and Children’s Rights

Adoption

Adoption is a legal process establishing a permanent parental relationship, granting the same rights and responsibilities as biological parenthood.

Types of Adoption

Type Description
Domestic / International Within-country vs. cross-border adoption
Private (Independent) / Agency Attorney-arranged vs. licensed agencies
Foster Care After parental rights are terminated
Stepparent/Kinship By a relative or step-parent
Open vs. Closed Degree of contact between birth and adoptive families

Process (U.S. Example)

  1. Application (choose agency/legal route).
  2. Home study (background checks, interviews).
  3. Matching (child with prospective parents).
  4. Placement (child lives with family).
  5. Finalization (court recognition of adoption).

Legal Considerations

  • Termination of parental rights is required before adoption; adoption is permanent once finalized; requirements vary by state/country.

Rights of Children

The rights of Children are fundamental entitlements recognized globally through treaties like the UN Convention on the Rights of the Child (UNCRC).

Key Principles of the UNCRC

Principle Description
Non-discrimination Equal rights regardless of identity
Best Interests Decisions must prioritize child well-being
Life, Survival, Development Safe, nurturing environments
Participation Right to be heard in matters that affect them

Core Rights (Selected)

Category Rights Included
Survival & Development Food, shelter, healthcare, education, safety
Protection From abuse, neglect, exploitation, child labor
Participation Express opinions; involvement in decisions
Identity Name, nationality, family ties, cultural identity
Education & Health Access to schooling and highest attainable health

Legal Frameworks Supporting Child Rights

Law / Treaty Region / Scope
UNCRC Global (ratified by 196 countries; not the U.S.)
CAPTA U.S. federal child protection law
IDEA U.S. services for children with disabilities
Family & Juvenile Law Custody, adoption, foster care, juvenile justice

Parens Patriae, Rights of Newborns, and Safe Haven Laws

Parens Patriae

Parens Patriae allows the state to act as guardian for individuals unable to protect themselves, especially minors or those with disabilities.

Context State’s Role
Child Abuse/Neglect Removal to foster care and protection
Medical Decisions Override parental refusal of necessary treatment
Education Ensure access to special education services
Juvenile Justice Rehabilitation emphasis
Mental Health Mandated treatment when necessary
  • Limitations: Potential conflicts with parental rights, religious freedom, due process, and risk of overreach.

Rights of Newborns

Category Rights Included
Life & Survival Immediate medical care, resuscitation, and protection from neglect
Health Immunizations, screenings (hearing, metabolic), nutrition
Identity Name, nationality, birth registration
Family Care Parental care or guardianship
Protection Safeguards from abuse, abandonment, exploitation
Dignity Respect and care regardless of status

U.S. Legal Protections

Law / Regulation Relevance
EMTALA Requires stabilization and treatment in emergencies
Infant Safe Haven Laws Legal surrender at designated locations
Newborn Screening Mandates Metabolic, genetic, and hearing screenings
CAPTA Abuse prevention and mandatory reporting

Abandoned Newborns & Safe Haven Laws

Safe Haven Laws allow a parent to legally and anonymously surrender a newborn at designated locations within a set age limit, avoiding prosecution if the infant is unharmed.

Key Feature Description
Eligibility Applies to newborns under a specific age (varies by state)
Locations Hospitals, fire stations, police stations (varies)
Anonymity Parents may remain anonymous in most states
Custody Infant placed in protective custody; adoption via child welfare

State Variations (Selected): Some states allow surrender up to 3–7 days; others up to 30–60 days; a few up to 90 days or even 1 year. Most authorize hospitals, fire, and police locations; protections and who may surrender vary.

Rights of Teenagers and Emancipated Minors

Rights of Teenagers

Category Rights
Education Free public education through age limits; Title IX protections
Safety Protection from abuse/neglect/exploitation
Healthcare Access to necessary care (parental consent usually required)
Due Process Legal protections in the juvenile system
Expression Speech, religion, assembly (within limits)
Privacy Limited in school/home; stronger in medical contexts

Age-Dependent or Restricted Rights

  • Medical autonomy for certain services (varies by state), emancipation, child labor protections, driving, marriage (with approvals), contracts, military service.

Key U.S. Protections

Law / Act Key Protections
FERPA Educational records access and privacy
HIPAA Healthcare privacy (some independent teen rights)
Title IX Gender discrimination protections in schools
ADA/IDEA Rights and services for disabilities

Emancipated Minors

Emancipation grants many adult rights before age 18 through court order, marriage, military service, or parental consent (jurisdiction-dependent).

Rights Gained Examples
Housing & Employment Sign leases, hold jobs, live independently
Healthcare Consent to medical/mental health treatment
Contracts Enter enforceable agreements
Education Enroll/withdraw without parental approval
Financial Control Open bank accounts, manage income, file taxes
  • Limitations: Cannot vote (under 18), buy age-restricted substances, or avoid criminal liability; requirements typically include minimum age, financial independence, maturity, valid living arrangements, and court approval.

Media Attributions

  • Native American family faces showing genetic similarities in multi-generational portrait with connection theme showcasing family heritage concept and cultural lineage bonds
  • dna
  • Female scientist working with computer in medical science lab. Biotechnology team developing drugs, gene therapy interface analysis. Medical research, science, tech and innovation in clinic.

License

Health 1010 Copyright © by Wyatt Slauson. All Rights Reserved.

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